British Journal ofPlastic Surgery(1976).
29,
175-178
THE AGLOSSIA-ADACTYLIA
SYNDROME
By G. E. ALVAREZ, M.D. Plastic Surgery Unit, The Hospital for Sick Children, Great Ormond Street, London WCr
HALL (1971) stated that prior to the case he presented he could find only g cases The first was a case of isolated of the aglossia-adactylia syndrome in the literature. aglossia reported by de Jussieu in 1718. The others showed a variety of oral deformities accompanying the characteristic hypoplasia of the tongue and malformation of the limbs. Most of the oral malformations previously reported were present in the case here described. CASE REPORT The first-born child of a healthy mother delivered at 41 weeks following a normal pregnancy and labour had a birth weight of 3.9 kg. Apgar was 7 at I minute and 8 at 5 minutes. There had been no radiation during the first trimester and the child’s mother took no drugs during pregnancy except Anadin during the 3rd and 4th weeks. At birth it was noted that it was impossible to open the child’s mouth because the gums of the upper and lower jaws were fused along the whole length of the tooth bearing segments. The child was therefore tube fed from birth, and for most of the 4 months while he was awaiting operation he was looked after at home by his parents with out-patient paediatric supervision. On examination at 4 months, he was an active, alert infant with a nasogastric tube in situ. The mandible was recessed and the lower lip attached to the alveolus; the inferior buccal sulcus was absent (Fig. I). The mandible and maxilla were fused along the full length of the alveolus. The right hand showed a lobster claw deformity with one digit and a thumb; the remaining digits were represented by rounded knobs of skin. The left arm had an elbow joint but the distal two-thirds of the forearm was absent (Fig. 2). The right leg was normal but the foot had the appearance of a metatarsal amputation. The toes of the left foot were webbed and there was a severe equinovarus deformity (Fig. 3). X-rays showed no abnormality of the vault of the skull, but the mandible and maxilla were hypoplastic and the tooth buds grossly abnormal. Tomography of the mandible showed a midline bony mass arising from the region of the symphysis and projecting backwards and upwards to the hard palate (Fig. 4). The ascending rami and the coronoid processes were present, but there were no condylar processes and no temporomandibular joint on either side. X-rays of the limbs confirmed the clinical appearance. No visceral or other abnormalities were detected. Operation. Nasal intubation was followed by a tracheostomy to ensure control of the airway. The alveoli were divided with a knife except in the region of the symphysis, where the large bony projection of the mandible was firmly attached ro the anterior part of the palate. This was divided with an osteotome, but there was still no movement of the mandible. Bilateral osteotomies were therefore performed as high as possible in the ascending rami through external incisions, whereupon the mouth could be opened freely. Some bone was removed from above the line of section on each side. Exploration of the mouth revealed a rudimentary tongue firmly tethered to the floor of the mouth. It was freed and the raw area covered with a skin graft. The operation was completed by freeing the lower lip from the alveolus and fixing an epithelial inlay on a stent mould (Fig. 5). Palpation of the faucial region revealed some constriction of the soft tissues abutting upon the soft palate, but the latter was reasonably mobile and the aperture was judged to be adequate for swallowing.
BRITISH
176
FIG. I.
Preoperative
appearance.
JOURNAL
OF
PLASTIC
SURGERY
The lower lip is attached to the alveolus and the nasogastric tube is in place.
FIG. 2. FIG.
A and B, Deformities 3. Deformities
of the upper limbs.
of the lower limbs.
THE AGLOSSIA-ADACTYLIA
FIG. 4.
SYNDROME
177
A and B, X-rays show the bony mass arising from the region of the symphysis projecting forwards and backwards to the hard palate (arrowed). Note the deformed tooth buds.
FIG. 5. Postoperative 29/2---E
appearance
of mouth showing the small tongue and the skin graft with which the lower buccal sulcus was reconstructed.
178
BRITISH JOURNAL OF PLASTIC SURGERY
Subsequent progress. The nasogastric tube was maintained while attempts at oral feeding began. At frrst the child was very reluctant to swallow, but he gradually developed a suction reflex and ultimately managed a completely oral diet. The nasogastric tube was then discontinued. Gain in weight continued to be satisfactory, Two months later a further operation was performed to increase the depth of the buccal sulcus using a postauricular Wolfe graft. The parents were given a dental exerciser with which to encourage movement of the jaw. Three months later, when last seen, the child had a good mouth aperture, with a good range of movement of the mandible. He managed a fluid diet normally but still had some difficulty with solids. The soft tissue stricture in the region of the fauces appeared to be relaxing slowly. Mentally the child is completely normal and it is clear that throughout the prolonged period of nasogastric feeding the parents succeeded in avoiding the occurrence of any harmful cyanotic attacks. DISCUSSION This boy has a severe degree of the aglossia-adactylia syndrome. Progress to date has been satisfactory, but there are problems for the future. At some stage the mandible will have to be lengthened to compensate for the lack of growth in the rami and condylar regions; it remains to be seen how well speech develops, and further work may be required on the stump of the tongue. The soft tissue constriction of the fauces remains a source of anxiety. The deformities of the limbs can be improved but he will always be physically handicapped. This case appears to be the eleventh reported in the literature.
. -“;
I wish to acknowledge my indebtednessfor permission to publish this case to Dr G. M. Lewis, Paediatrician at St May’s Hospital, Portsmouth, and Professor Normand, Paediatrician at Southampton General Hospital, who supervised his early care; and to Mr D. N. Matthews, who carried out the operations at the Hospital for Sick Children. I also wish to thank the Department of Medical Illustration, Hospital for Sick Children, for the illustrations. REFERENCES DE JUSSIEU, M. (1718). Observation sur la man&e dont une fille sans langue s’acquitte des fonctions qui dependent de cet organe. Histoires de l’dcademie Royale de Sciences de Paris, 6, 14. HALL, B. D. (1971). Aglossia-adactylia. &r&Defects, 6, 233.
29,
175-178
THE AGLOSSIA-ADACTYLIA
SYNDROME
By G. E. ALVAREZ, M.D. Plastic Surgery Unit, The Hospital for Sick Children, Great Ormond Street, London WCr
HALL (1971) stated that prior to the case he presented he could find only g cases The first was a case of isolated of the aglossia-adactylia syndrome in the literature. aglossia reported by de Jussieu in 1718. The others showed a variety of oral deformities accompanying the characteristic hypoplasia of the tongue and malformation of the limbs. Most of the oral malformations previously reported were present in the case here described. CASE REPORT The first-born child of a healthy mother delivered at 41 weeks following a normal pregnancy and labour had a birth weight of 3.9 kg. Apgar was 7 at I minute and 8 at 5 minutes. There had been no radiation during the first trimester and the child’s mother took no drugs during pregnancy except Anadin during the 3rd and 4th weeks. At birth it was noted that it was impossible to open the child’s mouth because the gums of the upper and lower jaws were fused along the whole length of the tooth bearing segments. The child was therefore tube fed from birth, and for most of the 4 months while he was awaiting operation he was looked after at home by his parents with out-patient paediatric supervision. On examination at 4 months, he was an active, alert infant with a nasogastric tube in situ. The mandible was recessed and the lower lip attached to the alveolus; the inferior buccal sulcus was absent (Fig. I). The mandible and maxilla were fused along the full length of the alveolus. The right hand showed a lobster claw deformity with one digit and a thumb; the remaining digits were represented by rounded knobs of skin. The left arm had an elbow joint but the distal two-thirds of the forearm was absent (Fig. 2). The right leg was normal but the foot had the appearance of a metatarsal amputation. The toes of the left foot were webbed and there was a severe equinovarus deformity (Fig. 3). X-rays showed no abnormality of the vault of the skull, but the mandible and maxilla were hypoplastic and the tooth buds grossly abnormal. Tomography of the mandible showed a midline bony mass arising from the region of the symphysis and projecting backwards and upwards to the hard palate (Fig. 4). The ascending rami and the coronoid processes were present, but there were no condylar processes and no temporomandibular joint on either side. X-rays of the limbs confirmed the clinical appearance. No visceral or other abnormalities were detected. Operation. Nasal intubation was followed by a tracheostomy to ensure control of the airway. The alveoli were divided with a knife except in the region of the symphysis, where the large bony projection of the mandible was firmly attached ro the anterior part of the palate. This was divided with an osteotome, but there was still no movement of the mandible. Bilateral osteotomies were therefore performed as high as possible in the ascending rami through external incisions, whereupon the mouth could be opened freely. Some bone was removed from above the line of section on each side. Exploration of the mouth revealed a rudimentary tongue firmly tethered to the floor of the mouth. It was freed and the raw area covered with a skin graft. The operation was completed by freeing the lower lip from the alveolus and fixing an epithelial inlay on a stent mould (Fig. 5). Palpation of the faucial region revealed some constriction of the soft tissues abutting upon the soft palate, but the latter was reasonably mobile and the aperture was judged to be adequate for swallowing.
BRITISH
176
FIG. I.
Preoperative
appearance.
JOURNAL
OF
PLASTIC
SURGERY
The lower lip is attached to the alveolus and the nasogastric tube is in place.
FIG. 2. FIG.
A and B, Deformities 3. Deformities
of the upper limbs.
of the lower limbs.
THE AGLOSSIA-ADACTYLIA
FIG. 4.
SYNDROME
177
A and B, X-rays show the bony mass arising from the region of the symphysis projecting forwards and backwards to the hard palate (arrowed). Note the deformed tooth buds.
FIG. 5. Postoperative 29/2---E
appearance
of mouth showing the small tongue and the skin graft with which the lower buccal sulcus was reconstructed.
178
BRITISH JOURNAL OF PLASTIC SURGERY
Subsequent progress. The nasogastric tube was maintained while attempts at oral feeding began. At frrst the child was very reluctant to swallow, but he gradually developed a suction reflex and ultimately managed a completely oral diet. The nasogastric tube was then discontinued. Gain in weight continued to be satisfactory, Two months later a further operation was performed to increase the depth of the buccal sulcus using a postauricular Wolfe graft. The parents were given a dental exerciser with which to encourage movement of the jaw. Three months later, when last seen, the child had a good mouth aperture, with a good range of movement of the mandible. He managed a fluid diet normally but still had some difficulty with solids. The soft tissue stricture in the region of the fauces appeared to be relaxing slowly. Mentally the child is completely normal and it is clear that throughout the prolonged period of nasogastric feeding the parents succeeded in avoiding the occurrence of any harmful cyanotic attacks. DISCUSSION This boy has a severe degree of the aglossia-adactylia syndrome. Progress to date has been satisfactory, but there are problems for the future. At some stage the mandible will have to be lengthened to compensate for the lack of growth in the rami and condylar regions; it remains to be seen how well speech develops, and further work may be required on the stump of the tongue. The soft tissue constriction of the fauces remains a source of anxiety. The deformities of the limbs can be improved but he will always be physically handicapped. This case appears to be the eleventh reported in the literature.
. -“;
I wish to acknowledge my indebtednessfor permission to publish this case to Dr G. M. Lewis, Paediatrician at St May’s Hospital, Portsmouth, and Professor Normand, Paediatrician at Southampton General Hospital, who supervised his early care; and to Mr D. N. Matthews, who carried out the operations at the Hospital for Sick Children. I also wish to thank the Department of Medical Illustration, Hospital for Sick Children, for the illustrations. REFERENCES DE JUSSIEU, M. (1718). Observation sur la man&e dont une fille sans langue s’acquitte des fonctions qui dependent de cet organe. Histoires de l’dcademie Royale de Sciences de Paris, 6, 14. HALL, B. D. (1971). Aglossia-adactylia. &r&Defects, 6, 233.
