Eur J Pediatr (1991) 150 : 250-252 034061999100030Y
European Journal of
Pediatrics
9 Springer-Verlag1991
The Floating-Harbor syndrome F. M a j e w s k i 1 and H . - G . L e n a r d a
1Institute of Human Genetics, Universit~itsstrasse 1, Geb~iude 23.12, W-4000 Dtisseldorf, Federal Republic of Germany 2Department of Paediatrics, University of Dtisseldorf, Federal Republic of Germany Received November 3, 1989 / Accepted July 27, 1990
Abstract. We describe the seventh patient with the Floa-
ting-Harbor syndrome. Similar to previous cases in the literature this girl presented with proportionate intrauterine and postnatal growth retardation, normocephaly, triangular face with bulbous nose, long eyelashes, short upper lip, small vermilion border of u p p e r lip, dorsally rotated ears, deep nuchal hair line, hirsutism, and clinodactyly of tittle fingers. She exhibited mental retardation and retarded speech development. Clinical symptoms and differential diagnosis of this rare syndrome are briefly discussed. K e y words: Floating-Harbor syndrome - I U G R - Bulbous nose - R e t a r d e d speech development
Introduction
Pelletier and Feingold [3] reported on a boy with proportional intrauterine and postnatal growth retardation ( I U G R ) , aberrant facies and retarded speech development. Leisti et al. [2] observed a boy with very similar abnormalities. Together they created the term FloatingH a r b o r syndrome from the names of the two clinics in which the boys were examined (Floating Hospital in Boston and H a r b o r General Hospital in Torrance). Z a b r a n s k y [6] described a boy with facial similiarities as in the American cases and I U G R . This boy had other different symptoms namely macro-orchidism, precocious puberty, lacunar skull, and hyperpigmentation of the skin. Z a b r a n s k y proposed the term Floating-HarborH o m b u r g syndrome, but due to aberrant symptoms of this patient, we believe this not to be justified. Four further typical children were published by Robinson et al. [4]. H e r e we present a further typically affected female. Offprint requests to: F. Majewski Abbreviations: IUGR = intrauterine and postnatal growth re-
tardation
Case report
The parents were healthy, non-consanguineous, of normal height and were of Iranian extraction. An older brother was normal. Pregnancy was complicated by stress due to multiple bombing attacks. The length of gestation was unclear, probably the child was born spontaneously preterm. Birth weight was "less then 2000 g", length 40cm, OFC not recorded. She suffered from recurrent bronchitis, was growth retarded and underweight. Statomotor development was normal. First words were allegedly spoken with 1 year, two word-combinations with 2 years, but from this time on the parents noted a delay of speech development. Measurements at age 6 years 11 months were height 101.5 cm (-4SD), weight 15kg ( - 2 k g corresponding to height), OFC 48.5 cm (20th percentile for height). There was mild brachycephaly. The scalp hair was thick as were the eyebrows. There was antimongoloid slant of palpebral fissures, the eyelashes were markedly long, the eyes not deep-set, there was convergent strabism, the nose was bulbous (not similar to parents or brother). The first upper incisors were large, the second displaced palatinally, the palate was high. The upper lip was short with narrow vermilion border (Fig. 1). The ears were dorsally rotated, the mandible mildly hypoplastic (Fig. 2). There was a deep nuchal hair line and marked hirsutism of the dorsal trunk and legs. There was clinodactyly V bilaterally, as well as moderate brachytelephalangy of all fingers. Similar to the father, the girl presented with mild cutaneous syndactyly of toes 2/3 bilaterally. There were no neurological abnormalities. According to the mother, speech development corresponds to 4 years. A non-verbal psychological test (Snijders-Oomen) revealed an IQ of 65. EEG and computed tomography scan were unremarkable. Carpal ossification was retarded by 2 years. There was no dificit of STH (insulin test), screening for metabolic disorders was negative.
Discussion
Our patient presented with the typical symptoms of the Floating-Harbor syndrome, a hitherto very rare and not well-known condition. Until now, six cases with this disorder have been published. The birth weight of five out of six cases was near the 3rd percentile, only one case had a normal birth weight. Length was more reduced than weight, being on or below the 3rd percentile in all cases. During childhood, height
251
lqg.1. The face of the patient: note antimongoloid palpebral fissures, bulbous nose, short upper lip, small vermilion border of upper lip Fig. 2. Profile of the patient: posteriorly rotated ears, short upper lip, long eyelashes
Table 1. Symptoms in seven patients with Floating-Harbor syndrom [2, 3, 4] IUGR Postnatal growth retardation Delayed bone age Delayed motor skills Speech delay Mental retardation
6/7 7/7 7/7 1/7 7/7 3/6 (2 mild)
Bulbous nose Short philtrum Thin lips Long eyelashes Malocclusion Posteriorly placed ears
7/7 7/7 7/7 7/7 5/7 6/7
Hirsutism ClinodactylyV Joint laxity
5/7 5/7 5/6
and weight increased parallel to the 3rd percentile, but was - 4 to - 6 SD below the mean for age. There are two postpuberal girls with a terminal height of 131 cm and 135 cm, and two postpuberal boys with a terminal height of 135 cm, and 142 cm, respectively. Microcephaly was not observed. Carpal ossification in young children was retarded by about - 2 SD, but normal fusion of the epiphyses occurred at age-normal puberty. The facial abnormalities are depicted Fig. 1 and Table 1. Characteristically, the face is triangular, the nose large with a bulbous tip, the columella is wide, the upper lip short, the vermilion border small, and the mouth
wide with downturned corner. The eyes in some cases are deep-set, the eyelashes are very long. Typically the ears are dorsally rotated. The nuchal hair line may be low, four out of six cases demonstrated hirsutism, four out of six clinodactyly of the little fingers. There is a discrepancy between the mostly normal statomotor and mental development and the marked speech delay which was present in all cases. The etiology of this rare disorder remains unclear. All cases so far have been sporadic. The parents of case 4 of Robinson et al. [4] were consanguineous. This is in favour of recessive inheritance, but of course no proof. Main differential diagnosis concerns the RubinsteinTaybi syndrome. Similar symptoms are intrauterine and postnatal growth retardation, as well as a large nose. But in contrast to children with Floating-Harbor syndrome, the nose in patients with Rubinstein-Taybi syndrome is beaked and protruding, the tip is small, not bulbous, and patients usually present with microcephaly, marked mental retardation and broad thumbs and big toes [1]. The Silver-Russell syndrome is characterized by proportionate IUGR, normal head circumference and triangular face, but without the other facial characteristics of the Floating-Harbor syndrome. Clinodactyly of the little fingers is similar in both syndromes. Hemihypotrophy is not a symptom of the Floating-Harbor syndrome. Speech and mental development in cases with the Silver-Russell syndrome are either normal or slightly subnormal [5]. The 3-M-syndrome is similar to the Silver-Russell syndrome and, in some aspects, to the Floating-Harbor syndrome. Differences from the latter are relative macrocephaly, thick lips, pointed chin, scapulae alatae, short neck, short, broad thorax, normal intelligence and speech in most patients. In contrast to all syndromes mentioned
252 above, the 3 - M - s y n d r o m e is inherited as an autosomal recessive trait.
References 1. Berry AC (1987) Rubinstein-Taybi syndrome. J Med Genet 24 : 562-566 2. Leisti J, Hollister DW, Rimoin DL (1974) Case report 2. Syndrome Identification J 2 : 305
3. Pelletier G, Feingold M (1973) Case report 1. Syndrome Identification J 1 : 8-9 4. Robinson PL, Shohat M, Winter RM, Conte WJ, Gordon-Nesbitt D, Feingold M, Laron Z, Rimoin DL (1988) An unique association of short stature, dysmorphic features, and speech impairment (Floating-Harbor syndrome). J Pediatr 113:703-706 5. Willems PJ, Dijkstra I, Schierbeek HH, Berger R, Smit GPA (1988) Activation of fatty acid oxidation in the Silver-Russell syndrome and the Brachmann-de Lange syndrome. Am J Med Genet 30: 865-873 6. Zabransky S (1985) Das Floating-Harbor-Homburg-Syndrom. Akt Endokr Stoffw 6 : 25-29
NATURE'S APTITUDE H o m o e o p a t h s , very unintentionally and unwittingly, I admit, came o p p o r t u n e l y to teach us to recognise the inherent forces of the living e c o n o m y . Their success, based with precision u p o n cures which they attribute to themselves, but which belong exclusively to nature, have b e e n useful lessons to us. T h e y have taught us to rely a little less on ourselves and a little m o r e on the wonderful aptitude o f the tissues and apparatus which constitute the animal machine.
Trousseau, Lectures on Clinical Medicine
European Journal of
Pediatrics
9 Springer-Verlag1991
The Floating-Harbor syndrome F. M a j e w s k i 1 and H . - G . L e n a r d a
1Institute of Human Genetics, Universit~itsstrasse 1, Geb~iude 23.12, W-4000 Dtisseldorf, Federal Republic of Germany 2Department of Paediatrics, University of Dtisseldorf, Federal Republic of Germany Received November 3, 1989 / Accepted July 27, 1990
Abstract. We describe the seventh patient with the Floa-
ting-Harbor syndrome. Similar to previous cases in the literature this girl presented with proportionate intrauterine and postnatal growth retardation, normocephaly, triangular face with bulbous nose, long eyelashes, short upper lip, small vermilion border of u p p e r lip, dorsally rotated ears, deep nuchal hair line, hirsutism, and clinodactyly of tittle fingers. She exhibited mental retardation and retarded speech development. Clinical symptoms and differential diagnosis of this rare syndrome are briefly discussed. K e y words: Floating-Harbor syndrome - I U G R - Bulbous nose - R e t a r d e d speech development
Introduction
Pelletier and Feingold [3] reported on a boy with proportional intrauterine and postnatal growth retardation ( I U G R ) , aberrant facies and retarded speech development. Leisti et al. [2] observed a boy with very similar abnormalities. Together they created the term FloatingH a r b o r syndrome from the names of the two clinics in which the boys were examined (Floating Hospital in Boston and H a r b o r General Hospital in Torrance). Z a b r a n s k y [6] described a boy with facial similiarities as in the American cases and I U G R . This boy had other different symptoms namely macro-orchidism, precocious puberty, lacunar skull, and hyperpigmentation of the skin. Z a b r a n s k y proposed the term Floating-HarborH o m b u r g syndrome, but due to aberrant symptoms of this patient, we believe this not to be justified. Four further typical children were published by Robinson et al. [4]. H e r e we present a further typically affected female. Offprint requests to: F. Majewski Abbreviations: IUGR = intrauterine and postnatal growth re-
tardation
Case report
The parents were healthy, non-consanguineous, of normal height and were of Iranian extraction. An older brother was normal. Pregnancy was complicated by stress due to multiple bombing attacks. The length of gestation was unclear, probably the child was born spontaneously preterm. Birth weight was "less then 2000 g", length 40cm, OFC not recorded. She suffered from recurrent bronchitis, was growth retarded and underweight. Statomotor development was normal. First words were allegedly spoken with 1 year, two word-combinations with 2 years, but from this time on the parents noted a delay of speech development. Measurements at age 6 years 11 months were height 101.5 cm (-4SD), weight 15kg ( - 2 k g corresponding to height), OFC 48.5 cm (20th percentile for height). There was mild brachycephaly. The scalp hair was thick as were the eyebrows. There was antimongoloid slant of palpebral fissures, the eyelashes were markedly long, the eyes not deep-set, there was convergent strabism, the nose was bulbous (not similar to parents or brother). The first upper incisors were large, the second displaced palatinally, the palate was high. The upper lip was short with narrow vermilion border (Fig. 1). The ears were dorsally rotated, the mandible mildly hypoplastic (Fig. 2). There was a deep nuchal hair line and marked hirsutism of the dorsal trunk and legs. There was clinodactyly V bilaterally, as well as moderate brachytelephalangy of all fingers. Similar to the father, the girl presented with mild cutaneous syndactyly of toes 2/3 bilaterally. There were no neurological abnormalities. According to the mother, speech development corresponds to 4 years. A non-verbal psychological test (Snijders-Oomen) revealed an IQ of 65. EEG and computed tomography scan were unremarkable. Carpal ossification was retarded by 2 years. There was no dificit of STH (insulin test), screening for metabolic disorders was negative.
Discussion
Our patient presented with the typical symptoms of the Floating-Harbor syndrome, a hitherto very rare and not well-known condition. Until now, six cases with this disorder have been published. The birth weight of five out of six cases was near the 3rd percentile, only one case had a normal birth weight. Length was more reduced than weight, being on or below the 3rd percentile in all cases. During childhood, height
251
lqg.1. The face of the patient: note antimongoloid palpebral fissures, bulbous nose, short upper lip, small vermilion border of upper lip Fig. 2. Profile of the patient: posteriorly rotated ears, short upper lip, long eyelashes
Table 1. Symptoms in seven patients with Floating-Harbor syndrom [2, 3, 4] IUGR Postnatal growth retardation Delayed bone age Delayed motor skills Speech delay Mental retardation
6/7 7/7 7/7 1/7 7/7 3/6 (2 mild)
Bulbous nose Short philtrum Thin lips Long eyelashes Malocclusion Posteriorly placed ears
7/7 7/7 7/7 7/7 5/7 6/7
Hirsutism ClinodactylyV Joint laxity
5/7 5/7 5/6
and weight increased parallel to the 3rd percentile, but was - 4 to - 6 SD below the mean for age. There are two postpuberal girls with a terminal height of 131 cm and 135 cm, and two postpuberal boys with a terminal height of 135 cm, and 142 cm, respectively. Microcephaly was not observed. Carpal ossification in young children was retarded by about - 2 SD, but normal fusion of the epiphyses occurred at age-normal puberty. The facial abnormalities are depicted Fig. 1 and Table 1. Characteristically, the face is triangular, the nose large with a bulbous tip, the columella is wide, the upper lip short, the vermilion border small, and the mouth
wide with downturned corner. The eyes in some cases are deep-set, the eyelashes are very long. Typically the ears are dorsally rotated. The nuchal hair line may be low, four out of six cases demonstrated hirsutism, four out of six clinodactyly of the little fingers. There is a discrepancy between the mostly normal statomotor and mental development and the marked speech delay which was present in all cases. The etiology of this rare disorder remains unclear. All cases so far have been sporadic. The parents of case 4 of Robinson et al. [4] were consanguineous. This is in favour of recessive inheritance, but of course no proof. Main differential diagnosis concerns the RubinsteinTaybi syndrome. Similar symptoms are intrauterine and postnatal growth retardation, as well as a large nose. But in contrast to children with Floating-Harbor syndrome, the nose in patients with Rubinstein-Taybi syndrome is beaked and protruding, the tip is small, not bulbous, and patients usually present with microcephaly, marked mental retardation and broad thumbs and big toes [1]. The Silver-Russell syndrome is characterized by proportionate IUGR, normal head circumference and triangular face, but without the other facial characteristics of the Floating-Harbor syndrome. Clinodactyly of the little fingers is similar in both syndromes. Hemihypotrophy is not a symptom of the Floating-Harbor syndrome. Speech and mental development in cases with the Silver-Russell syndrome are either normal or slightly subnormal [5]. The 3-M-syndrome is similar to the Silver-Russell syndrome and, in some aspects, to the Floating-Harbor syndrome. Differences from the latter are relative macrocephaly, thick lips, pointed chin, scapulae alatae, short neck, short, broad thorax, normal intelligence and speech in most patients. In contrast to all syndromes mentioned
252 above, the 3 - M - s y n d r o m e is inherited as an autosomal recessive trait.
References 1. Berry AC (1987) Rubinstein-Taybi syndrome. J Med Genet 24 : 562-566 2. Leisti J, Hollister DW, Rimoin DL (1974) Case report 2. Syndrome Identification J 2 : 305
3. Pelletier G, Feingold M (1973) Case report 1. Syndrome Identification J 1 : 8-9 4. Robinson PL, Shohat M, Winter RM, Conte WJ, Gordon-Nesbitt D, Feingold M, Laron Z, Rimoin DL (1988) An unique association of short stature, dysmorphic features, and speech impairment (Floating-Harbor syndrome). J Pediatr 113:703-706 5. Willems PJ, Dijkstra I, Schierbeek HH, Berger R, Smit GPA (1988) Activation of fatty acid oxidation in the Silver-Russell syndrome and the Brachmann-de Lange syndrome. Am J Med Genet 30: 865-873 6. Zabransky S (1985) Das Floating-Harbor-Homburg-Syndrom. Akt Endokr Stoffw 6 : 25-29
NATURE'S APTITUDE H o m o e o p a t h s , very unintentionally and unwittingly, I admit, came o p p o r t u n e l y to teach us to recognise the inherent forces of the living e c o n o m y . Their success, based with precision u p o n cures which they attribute to themselves, but which belong exclusively to nature, have b e e n useful lessons to us. T h e y have taught us to rely a little less on ourselves and a little m o r e on the wonderful aptitude o f the tissues and apparatus which constitute the animal machine.
Trousseau, Lectures on Clinical Medicine
