Anaesthesia, 1992, Volume 47, pages 137-140 CASE R E P O R T
Anaesthetic problems in a child with ectrodactyly, ectodermal dysplasia and cleft liplpalate The EEC syndrome A. MIZUSHIMA
AND
M. SATOYOSHI
Summary The EEC syndrome is a congenital anomaly complex associated with ectrodactyly. ectodermal dysplasia, and cleft lip and palate. We present a patient with the complete form of this syndrome who had undergone eight operations in childhood. The main problems encountered by the anaesthetists were malnutrition, dijiculty with control of body temperature related to hypohidrosis and persistent infection of the respiratory tract.
Key words Anaesthesia; paediatric. Complications; EEC syndrome (ectrodactyly, ectodermal dysplasia, cleft lip and palate), hypohidrosis.
The EEC syndrome is a congenital anomaly complex characterised by ectrodactyly, ectodermal dysplasia, and cleft lip and palate [ I , 21. Recently, a high incidence of genitourinary anomalies, including cryptorchidism, hypospadias and hydronephrosis, have been reported in addition [3,4]. Affected patients frequently require repeated surgery, especially in childhood. Although these abnormalities must complicate the peri-operative course, very little has been published about the anaesthetic management. We describe a patient who had the complete form of the EEC syndrome which included severe malnutrition, chronic respiratory tract infection and difficulty with body temperature control. The problems of the anaesthetic management are discussed. Case history A 2.65 kg full term female infant was born after an uncomplicated prenatal course. There was no family history of congenital malformations or parental consanguinity. At birth, the following abnormalities were noted; split hands and feet, alopecia totalis, hypopigmentation, hypoplasia of lacrimal ducts, low set and deformed ears, burn-like skin erosions over the body, and complete cleft lip and palate. Chromosomal analysis revealed a normal 46 XX pattern. At 18 months, the patient was transferred to our hospital for surgical treatment. She was severely malnourished and weighed 7.2 kg. Her skin was thin and dry and she had a large ulcer on her head. Chronic blepharitis, keratocon-
junctivitis, and purulent otorrhoea were present. The tongue was large, and the lingual and oral mucosa were dry and covered with thick white patches. She could not control her head and tended to lie prone. On auscultation of the chest, widespread coarse crepitations were heard. The sputum was thick, and chest X ray showed a generalised increase in density over the lung fields. There were wide fluctuations in body temperature. The operations and their anaesthetic management are summarized in Table 1 and peri-operative complications in Table 2. Operation I Before the corrective surgery, a gastrostomy was needed for feeding. N o premedication was given. On arrival in the operating theatre, the patient was in an excited state. Monitors consisted of precordial stethoscope, electrocardiogram, indirect arterial pressure, and rectal temperature. After pre-oxygenation, anaesthesia was induced with halothane 2% and nitrous oxide 50% in oxygen with spontaneous respiration. Tracheal intubation was accomplished easily without a neuromuscular relaxant and ventilation was controlled artificially by hand. Frequent tracheal suction was needed because of copious thick secretions. The rectal temperature increased to 38°C and topical cooling with alcohol was started. Suxamethonium 15 mg was given in divided doses during the surgical procedure. There was an abnormal tendency to bleed from the oper-
A. Mizushima, MD, PhD, Instructor, M. Satoyoshi, MD, PhD, Emeritus Professor, Department of Anesthesiology, Juntendo University School of Medicine, 2-1-1, Hongo, Bunkyo-ku, Tokyo, 113, Japan. Accepted 5 June 1991. 0003-2409/92/020 I37 + 04 $03.00/0
@ 1992 The Association of Anaesthetists of G t Britain and Ireland
137
I38
A . Mizushima and M . Satoyoshi
Fig. 1. Clinical appearance on admission. Left: dry and thin skin with large ulcer of the head, absence of eyebrows and eyelashes, blepharitis, keratoconjunctivitis, low-set and deformed ears, broad nose, and bilateral complete cleft lip and palate. TOP right: typical split hands deformity. Bottom right: typical split feet deformity. These photographs are published with the consent of the child's guardian and the ethics board of Juntendo University School of Medicine.
ating field. After tracheal lavage, the tube was removed. The recovery period was uneventful. Histological examination of a skin biopsy confirmed hypoplasia of the sweat glands. Operation 2 After 4 months of nutritional support, repair of the cleft lip and skin grafting to a large ulcer of the head were performed. Diazepam syrup 5 mg was given via the gastrostomy 2 h before operation, and this time the patient was quite calm on arrival in the operating theatre. Monitoring, which was the same as for the first operation with the addition of pulse oximetry, was begun before induction. Anaesthesia was induced with halothane 1.5% and thiopentone 25mg and the trachea was intubated without a neuromuscular relaxant. Anaesthesia was maintained with enflurane 1-2%. An external incision was needed to insert the urinary catheter because of vulva1 hypoplasia. When the rectal temperature increased to 37.8"C, body surface
cooling was started with alcohol and a cooling mat. However, rectal temperature decreased so rapidly to 34.8'C that cooling was discontinued and the temperature subsequently rose to 36°C without special treatment. Red cell concentrate 60 ml was transfused because of a pre-operative anaemia. Frequent tracheal suction and bronchial lavage were needed to remove the copious secretions. The recovery from anaesthesia was smooth except for transient shivering and peripheral cyanosis although the oxygen saturation was greater than 95% throughout the operation. For 3 days after surgery the axillary temperature was difficult to control and fluctuated from 36.2"C to 39.6"C. Operation 3 After correction of the cleft lip, repair of the cleft palate was performed. Anaesthetic procedures were identical to those in operation 2. This time, with careful management, the intra-operative rectal temperature was maintained between 36.1 and 37.4"C.
Table 1. Operations and anaesthetic management,
No.
Operation
Premedication
Induction*
Maintenance*
Neuromuscular blocker
Nil Diazepam
Halothane Halothane thiopentone Halothane Halothane Enflurane Enflurane Halothane thiopentone Halothane thiopentone
Halothane Enflurane
Suxamethonium Nil
Enflurane Halothane Enflurane Enflurane Enflurane
Nil Nil Pancuronium Pancuroniumg Pancuroniumg
Halothane
Vecuroniumg
~~
I 2
8
*,
1 year 7 months I year 10 months
7.8 8.5
2 years 2 months 2 years 7 months 2 years I I months 3 years 3 months 3 years 8 months
10.6 10.0 11.0 11.8 12.5
4 years 4 months
10.4
Gastrostomy Surgical repair of cleft lip skin grafting of the head ulcer1 Surgical repair of cleft palate1 Left keratoplastyt Right keratoplastyt Left keratoplastyt Surgical repair of the split-feet skin grafting of the head ulcer: Closure of gastrostoma
with nitrous oxide in oxygen; t , emergency operation; neostigmine after operation.
Diazepam Nil Nil Nil Nil Diazepam
1, adrenaline infiltration in the surgical fields; 4, reversed with atropine and
Anaesthetic problems in a child with EEC syndrome
139
Table 2. Peri-operative complications.
Pre-operation
Intra-operation
Postoperation
3
Leukocytosis
Copious tracheal secretions bleeding tendency Copious tracheal secretions hypothermiat, shivering peripheral cyanosis Copious tracheal secretions Copious tracheal secretions hypothermia Copious tracheal secretions Copious tracheal secretions hypothermia Copious tracheal secretions
Hyperthermia*
2
Severe malnutrition anaemia Anaemia
No. I
4
5-6 7
Leukocytosis Anaemia
8
Hyperthermia Hyperthermia
Severe diarrhoea hyperthermia Hypothermia
*; above 38.5”C. t; below 36.0”C. Operation 4-6 In spite of ophthalmological care, emergency keratoplasties were required for perforations of the cornea. Infection of the respiratory tract, with thick secretions, persisted. Again, body temperature showed only relatively small fluctuations. Operution 7 When the patient was able to stand up, surgical repair of the feet was required. At the same time, skin grafting was performed for a nonhealing ulcer of the head. Severe diarrhoea occurred after surgery. She was discharged after the seventh operation but had to be readmitted because of weight loss to 9.4 kg as a result of feeding problems. Operation 8 Feeding improved, therefore the gastrostomy was closed before the patient finally left hospital. At the time of discharge at the age of 4 years, her developmental age was estimated to be about 15 months and she had severe impairment of vision and hearing.
Discussion The EEC syndrome was first described in 1970 [I]. At least I80 patients have been described subsequently, of whom there were 70 with the complete triad [3, 51. Autosomal dominant inheritance has been suggested in some cases and sporadic appearance in others [2, 5-71. This patient had a normal chromosomal pattern and no family history of congenital anomaly, therefore she was considered to be a sporadic case. The following problems were encountered in our patient. ( I ) Ectrodacryly: the most characteristic feature of the syndrome is lobster claw deformity. However, variable degrees of abnormalities such as syndactyly and clinodactyly are included in the incomplete form, and may require repeated surgery. In our patient, correction of abnormalities of the feet was undertaken to allow shoes to be fitted. ( 2 ) Ectodermal dysplasiu: this affects the skin, hair, teeth, eyes, ears, mucosae, sweat glands. and central nervous system and may be the predominant clinical abnormality. (a) Temperature control disordered control of body
temperature was noticed throughout the course of treatment, and resulted from impaired heat loss with hypohidrosis secondary to hypoplasia of the sweat glands. Immaturity of central temperature control mechanisms may have contributed to excessive cooling during anaesthesia and the wide fluctuations in temperature seen in the ward. Atropine as premedication was avoided in all operations, to prevent exacerbation of hypohidrosis and heat retention. (b) Respiratory tract infection: chronic infection has persisted even after surgical repair of cleft lip and palate. Chest physiotherapy is important to reduce intra- and postoperative respiratory complications. Tracheal intubation and controlled ventilation with humidification was essential in all operations to cope with the thick, copious secretions. Repeated tracheal suction, bronchial lavage and postural drainage were required. (c) Skin fragility: the combination of malnutrition and a thin, delicate, fair skin resulted in ulcers which failed to heal with conservative treatment. Extreme care is required peri-operatively to prevent further damage. (d) Eye complications: chronic blepharitis, conjunctivitis, and keratitis, are common features of this syndrome and result from decreased tear formation. Intra-operative eye protection is essential and in our case the eyes were protected with ointment. (e) CNS involvement: mental retardation in 8% and hearing impairment in 13% of the patients with EEC syndrome has been reported [3]. Our patient suffered from both complications. (3) Cleft lip and palate: these cause feeding difficulties, repeated respiratory tract infection, and airway management problems. Difficult tracheal intubation may be associated with this syndrome but in this case, intubation was facilitated by the use of a handmade gauze pack to bridge the cleft. (4) Malnutrition and anaemia were major problems which resulted from poor oral intake and loss of protein from skin ulcers. On admission, the patient’s weight was below the third percentile for her age and she had a low serum iron. The feeding gastrostomy was required for 33 months, in addition to repeated blood transfusion. (5) Genitourinary anomalies have been reported as a major feature of this uncommon syndrome [4,51, although in our case, no renal abnormality was noted. However, the presence of vulva1 hypoplasia meant that a perineal incision was needed to insert the urinary catheter.
140
A . Mizushima and M . Satoyoshi
Syndromes which are associated with ectodermal dysplasia have multiple complications and manifest themselves in many different ways. Although patients with the full EEC syndrome are easy to diagnose, there are a number of related syndromes in which some of the features are absent.
Acknowledgments The authors thank Dr D. L. Simpson, Consultant at the Royal Hospital for Sick Children, Edinburgh, for his help in preparing the manuscript. We are also very grateful to both Professor A.A. Spence, University of Edinburgh, and Dr S.J. Rowbottom, Senior Registrar at the Royal Infirmary of Edinburgh, for their advice and encouragement.
References [I] RUDIGERRA, HAASE W, PASSARGEE. Association of ectrodactyly, ectodermal dysplasia, and cleft lip-palate. American Journal of Diseases of Children 1970; 1M:160-3.
[2] PRIESC,MITTELMAN D, MILLERM, SOLOMON LM, PASHAYAN S. The EEC syndrome. American Journal of HM, PRUZANSKY Diseases of Children 1974; 127: 840-4. [3] KUSTERW. Further reports of urinary tract involvement in EEC syndrome. American Journal of Diseases of Children 1986; 140: 411. [4] ROLLNICKBR, H m JJ. Genitourinary anomalies are a component manifestation in the ectodermal dysplasia, ectrodactyly, cleft lip/palate (EEC) syndrome. American Journal of Medical Genetics 1988; 2 9 131-6. [S] KUSTERW, MAJEWSKI F, MEINECKE P. EEC syndrome without ectrodactyly? Report of 8 cases. Clinical Genetics 1985; u1: 130-5, [6] MAJEWSKI F, KUSTERW. EEC syndrome sine sine? Report of a family with oligosymptomatic EEC syndrome. Clinical Genetics 1988; 33: 69-72. S, [7] JAMEHWR M, BELIGEREN, KAYE CI, PRUZANSKY ROSENTHAL 1. Incomplete EEC syndrome in a patient with mosaic monosomy 21. Clefr Palate Journal 1978; I 5 390-7.
Anaesthetic problems in a child with ectrodactyly, ectodermal dysplasia and cleft liplpalate The EEC syndrome A. MIZUSHIMA
AND
M. SATOYOSHI
Summary The EEC syndrome is a congenital anomaly complex associated with ectrodactyly. ectodermal dysplasia, and cleft lip and palate. We present a patient with the complete form of this syndrome who had undergone eight operations in childhood. The main problems encountered by the anaesthetists were malnutrition, dijiculty with control of body temperature related to hypohidrosis and persistent infection of the respiratory tract.
Key words Anaesthesia; paediatric. Complications; EEC syndrome (ectrodactyly, ectodermal dysplasia, cleft lip and palate), hypohidrosis.
The EEC syndrome is a congenital anomaly complex characterised by ectrodactyly, ectodermal dysplasia, and cleft lip and palate [ I , 21. Recently, a high incidence of genitourinary anomalies, including cryptorchidism, hypospadias and hydronephrosis, have been reported in addition [3,4]. Affected patients frequently require repeated surgery, especially in childhood. Although these abnormalities must complicate the peri-operative course, very little has been published about the anaesthetic management. We describe a patient who had the complete form of the EEC syndrome which included severe malnutrition, chronic respiratory tract infection and difficulty with body temperature control. The problems of the anaesthetic management are discussed. Case history A 2.65 kg full term female infant was born after an uncomplicated prenatal course. There was no family history of congenital malformations or parental consanguinity. At birth, the following abnormalities were noted; split hands and feet, alopecia totalis, hypopigmentation, hypoplasia of lacrimal ducts, low set and deformed ears, burn-like skin erosions over the body, and complete cleft lip and palate. Chromosomal analysis revealed a normal 46 XX pattern. At 18 months, the patient was transferred to our hospital for surgical treatment. She was severely malnourished and weighed 7.2 kg. Her skin was thin and dry and she had a large ulcer on her head. Chronic blepharitis, keratocon-
junctivitis, and purulent otorrhoea were present. The tongue was large, and the lingual and oral mucosa were dry and covered with thick white patches. She could not control her head and tended to lie prone. On auscultation of the chest, widespread coarse crepitations were heard. The sputum was thick, and chest X ray showed a generalised increase in density over the lung fields. There were wide fluctuations in body temperature. The operations and their anaesthetic management are summarized in Table 1 and peri-operative complications in Table 2. Operation I Before the corrective surgery, a gastrostomy was needed for feeding. N o premedication was given. On arrival in the operating theatre, the patient was in an excited state. Monitors consisted of precordial stethoscope, electrocardiogram, indirect arterial pressure, and rectal temperature. After pre-oxygenation, anaesthesia was induced with halothane 2% and nitrous oxide 50% in oxygen with spontaneous respiration. Tracheal intubation was accomplished easily without a neuromuscular relaxant and ventilation was controlled artificially by hand. Frequent tracheal suction was needed because of copious thick secretions. The rectal temperature increased to 38°C and topical cooling with alcohol was started. Suxamethonium 15 mg was given in divided doses during the surgical procedure. There was an abnormal tendency to bleed from the oper-
A. Mizushima, MD, PhD, Instructor, M. Satoyoshi, MD, PhD, Emeritus Professor, Department of Anesthesiology, Juntendo University School of Medicine, 2-1-1, Hongo, Bunkyo-ku, Tokyo, 113, Japan. Accepted 5 June 1991. 0003-2409/92/020 I37 + 04 $03.00/0
@ 1992 The Association of Anaesthetists of G t Britain and Ireland
137
I38
A . Mizushima and M . Satoyoshi
Fig. 1. Clinical appearance on admission. Left: dry and thin skin with large ulcer of the head, absence of eyebrows and eyelashes, blepharitis, keratoconjunctivitis, low-set and deformed ears, broad nose, and bilateral complete cleft lip and palate. TOP right: typical split hands deformity. Bottom right: typical split feet deformity. These photographs are published with the consent of the child's guardian and the ethics board of Juntendo University School of Medicine.
ating field. After tracheal lavage, the tube was removed. The recovery period was uneventful. Histological examination of a skin biopsy confirmed hypoplasia of the sweat glands. Operation 2 After 4 months of nutritional support, repair of the cleft lip and skin grafting to a large ulcer of the head were performed. Diazepam syrup 5 mg was given via the gastrostomy 2 h before operation, and this time the patient was quite calm on arrival in the operating theatre. Monitoring, which was the same as for the first operation with the addition of pulse oximetry, was begun before induction. Anaesthesia was induced with halothane 1.5% and thiopentone 25mg and the trachea was intubated without a neuromuscular relaxant. Anaesthesia was maintained with enflurane 1-2%. An external incision was needed to insert the urinary catheter because of vulva1 hypoplasia. When the rectal temperature increased to 37.8"C, body surface
cooling was started with alcohol and a cooling mat. However, rectal temperature decreased so rapidly to 34.8'C that cooling was discontinued and the temperature subsequently rose to 36°C without special treatment. Red cell concentrate 60 ml was transfused because of a pre-operative anaemia. Frequent tracheal suction and bronchial lavage were needed to remove the copious secretions. The recovery from anaesthesia was smooth except for transient shivering and peripheral cyanosis although the oxygen saturation was greater than 95% throughout the operation. For 3 days after surgery the axillary temperature was difficult to control and fluctuated from 36.2"C to 39.6"C. Operation 3 After correction of the cleft lip, repair of the cleft palate was performed. Anaesthetic procedures were identical to those in operation 2. This time, with careful management, the intra-operative rectal temperature was maintained between 36.1 and 37.4"C.
Table 1. Operations and anaesthetic management,
No.
Operation
Premedication
Induction*
Maintenance*
Neuromuscular blocker
Nil Diazepam
Halothane Halothane thiopentone Halothane Halothane Enflurane Enflurane Halothane thiopentone Halothane thiopentone
Halothane Enflurane
Suxamethonium Nil
Enflurane Halothane Enflurane Enflurane Enflurane
Nil Nil Pancuronium Pancuroniumg Pancuroniumg
Halothane
Vecuroniumg
~~
I 2
8
*,
1 year 7 months I year 10 months
7.8 8.5
2 years 2 months 2 years 7 months 2 years I I months 3 years 3 months 3 years 8 months
10.6 10.0 11.0 11.8 12.5
4 years 4 months
10.4
Gastrostomy Surgical repair of cleft lip skin grafting of the head ulcer1 Surgical repair of cleft palate1 Left keratoplastyt Right keratoplastyt Left keratoplastyt Surgical repair of the split-feet skin grafting of the head ulcer: Closure of gastrostoma
with nitrous oxide in oxygen; t , emergency operation; neostigmine after operation.
Diazepam Nil Nil Nil Nil Diazepam
1, adrenaline infiltration in the surgical fields; 4, reversed with atropine and
Anaesthetic problems in a child with EEC syndrome
139
Table 2. Peri-operative complications.
Pre-operation
Intra-operation
Postoperation
3
Leukocytosis
Copious tracheal secretions bleeding tendency Copious tracheal secretions hypothermiat, shivering peripheral cyanosis Copious tracheal secretions Copious tracheal secretions hypothermia Copious tracheal secretions Copious tracheal secretions hypothermia Copious tracheal secretions
Hyperthermia*
2
Severe malnutrition anaemia Anaemia
No. I
4
5-6 7
Leukocytosis Anaemia
8
Hyperthermia Hyperthermia
Severe diarrhoea hyperthermia Hypothermia
*; above 38.5”C. t; below 36.0”C. Operation 4-6 In spite of ophthalmological care, emergency keratoplasties were required for perforations of the cornea. Infection of the respiratory tract, with thick secretions, persisted. Again, body temperature showed only relatively small fluctuations. Operution 7 When the patient was able to stand up, surgical repair of the feet was required. At the same time, skin grafting was performed for a nonhealing ulcer of the head. Severe diarrhoea occurred after surgery. She was discharged after the seventh operation but had to be readmitted because of weight loss to 9.4 kg as a result of feeding problems. Operation 8 Feeding improved, therefore the gastrostomy was closed before the patient finally left hospital. At the time of discharge at the age of 4 years, her developmental age was estimated to be about 15 months and she had severe impairment of vision and hearing.
Discussion The EEC syndrome was first described in 1970 [I]. At least I80 patients have been described subsequently, of whom there were 70 with the complete triad [3, 51. Autosomal dominant inheritance has been suggested in some cases and sporadic appearance in others [2, 5-71. This patient had a normal chromosomal pattern and no family history of congenital anomaly, therefore she was considered to be a sporadic case. The following problems were encountered in our patient. ( I ) Ectrodacryly: the most characteristic feature of the syndrome is lobster claw deformity. However, variable degrees of abnormalities such as syndactyly and clinodactyly are included in the incomplete form, and may require repeated surgery. In our patient, correction of abnormalities of the feet was undertaken to allow shoes to be fitted. ( 2 ) Ectodermal dysplasiu: this affects the skin, hair, teeth, eyes, ears, mucosae, sweat glands. and central nervous system and may be the predominant clinical abnormality. (a) Temperature control disordered control of body
temperature was noticed throughout the course of treatment, and resulted from impaired heat loss with hypohidrosis secondary to hypoplasia of the sweat glands. Immaturity of central temperature control mechanisms may have contributed to excessive cooling during anaesthesia and the wide fluctuations in temperature seen in the ward. Atropine as premedication was avoided in all operations, to prevent exacerbation of hypohidrosis and heat retention. (b) Respiratory tract infection: chronic infection has persisted even after surgical repair of cleft lip and palate. Chest physiotherapy is important to reduce intra- and postoperative respiratory complications. Tracheal intubation and controlled ventilation with humidification was essential in all operations to cope with the thick, copious secretions. Repeated tracheal suction, bronchial lavage and postural drainage were required. (c) Skin fragility: the combination of malnutrition and a thin, delicate, fair skin resulted in ulcers which failed to heal with conservative treatment. Extreme care is required peri-operatively to prevent further damage. (d) Eye complications: chronic blepharitis, conjunctivitis, and keratitis, are common features of this syndrome and result from decreased tear formation. Intra-operative eye protection is essential and in our case the eyes were protected with ointment. (e) CNS involvement: mental retardation in 8% and hearing impairment in 13% of the patients with EEC syndrome has been reported [3]. Our patient suffered from both complications. (3) Cleft lip and palate: these cause feeding difficulties, repeated respiratory tract infection, and airway management problems. Difficult tracheal intubation may be associated with this syndrome but in this case, intubation was facilitated by the use of a handmade gauze pack to bridge the cleft. (4) Malnutrition and anaemia were major problems which resulted from poor oral intake and loss of protein from skin ulcers. On admission, the patient’s weight was below the third percentile for her age and she had a low serum iron. The feeding gastrostomy was required for 33 months, in addition to repeated blood transfusion. (5) Genitourinary anomalies have been reported as a major feature of this uncommon syndrome [4,51, although in our case, no renal abnormality was noted. However, the presence of vulva1 hypoplasia meant that a perineal incision was needed to insert the urinary catheter.
140
A . Mizushima and M . Satoyoshi
Syndromes which are associated with ectodermal dysplasia have multiple complications and manifest themselves in many different ways. Although patients with the full EEC syndrome are easy to diagnose, there are a number of related syndromes in which some of the features are absent.
Acknowledgments The authors thank Dr D. L. Simpson, Consultant at the Royal Hospital for Sick Children, Edinburgh, for his help in preparing the manuscript. We are also very grateful to both Professor A.A. Spence, University of Edinburgh, and Dr S.J. Rowbottom, Senior Registrar at the Royal Infirmary of Edinburgh, for their advice and encouragement.
References [I] RUDIGERRA, HAASE W, PASSARGEE. Association of ectrodactyly, ectodermal dysplasia, and cleft lip-palate. American Journal of Diseases of Children 1970; 1M:160-3.
[2] PRIESC,MITTELMAN D, MILLERM, SOLOMON LM, PASHAYAN S. The EEC syndrome. American Journal of HM, PRUZANSKY Diseases of Children 1974; 127: 840-4. [3] KUSTERW. Further reports of urinary tract involvement in EEC syndrome. American Journal of Diseases of Children 1986; 140: 411. [4] ROLLNICKBR, H m JJ. Genitourinary anomalies are a component manifestation in the ectodermal dysplasia, ectrodactyly, cleft lip/palate (EEC) syndrome. American Journal of Medical Genetics 1988; 2 9 131-6. [S] KUSTERW, MAJEWSKI F, MEINECKE P. EEC syndrome without ectrodactyly? Report of 8 cases. Clinical Genetics 1985; u1: 130-5, [6] MAJEWSKI F, KUSTERW. EEC syndrome sine sine? Report of a family with oligosymptomatic EEC syndrome. Clinical Genetics 1988; 33: 69-72. S, [7] JAMEHWR M, BELIGEREN, KAYE CI, PRUZANSKY ROSENTHAL 1. Incomplete EEC syndrome in a patient with mosaic monosomy 21. Clefr Palate Journal 1978; I 5 390-7.
