American Journal of Medical Genetics 38:562-564 (1991)
Brief Clinical Report Floating-Harbor Syndrome and Celiac Disease Albert E. Chudley and Stanley P. Moroz Departments of Pediatrics and Child Health and H u m a n Genetics, University of Manitoba, and the Sections of Clinical Genetics (A .EL‘.) and Pediatric Gastroenterology (S.P.M.), Children’s Hospital, Winnipeg, Manitoba, Canada
We report on a 17-year-oldyoung woman with a speech impediment, developmental delay, short stature, and facial anomalies consistent with the Floating-Harbor syndrome (FHS).In addition, she has clinical and histological evidence of celiac disease, which was observed in 1 of the 6 previously reported cases of FHS, suggesting a possible association between the 2 conditions or pleiotropism of a presumed autosomal recessive disorder. KEY WORDS: malabsorption, celiac disease, short stature, speech and developmental delay, facial anomalies, Floating Harbor syndrome, autosomal recessive INTRODUCTION Robinson et al. [ 19881summarized the manifestations of 6 unrelated patients with a n apparently unique syndrome ofpeculiar face, short stature, and delayed speech development. The name Floating-Harbor syndrome (FHS) was suggested, since the first 2 cases were identified a t the Boston Floating Hospital and Harbor General Hospital, Torrance, California [Pelletier and Feingold, 1973; Leisti et al., 19741. Patient 6, in the report by Robinson et al. [1988], had celiac disease confirmed by intestinal biopsy. Nutritional status and abdominal distention improved after introduction of a gluten-free diet, but catch-up growth did not occur. We report on a patient with FHS who also has celiac disease. CLINICAL REPORT
HF was the ninth of 11 children born to healthy, nonconsanguineous parents of Canadian-Mennonite background. The father was 33 years and the mother
Received for publication November 10, 1989; revision received May 23, 1990. Address reprint requests to Dr. A.E. Chudley, Room FE231, Community Services Building, Children’s Hospital, 840 Sherbrook Street, Winnipeg, Manitoba R3A 1S1,Canada.
0 1991 Wiley-Liss, Inc.
was 32 years of age at the time of HF’s conception. An older brother was stillborn, a paternal female first cousin has cerebral palsy, and 2 brothers of the maternal grandfather were mentally retarded. Otherwise, the family history was unremarkable. Her sibs were of average height with good health and normal development. Her father was 175 cm and her mother was 154 cm tall. The pregnancy was normal and she weighed 2,300 g at term. She was small throughout infancy and childhood. Her motor development was essentially normal, but speech was delayed. Because of failure to thrive, short stature, recurring vomiting, abdominal distention, developmental delay, and peculiar face distinct from that of sibs and parents, she was seen by numerous pediatric specialists. Investigations a t age 30 months showed normal skull films with brachycephaly noted, and incidental fusion of the first and second anterior left ribs. At 30 months the bone age was 18 months. Thyroid function, gonadotrophin levels, and quantitative immunoglobulins were normal. Fat balance and D-XylOSe tolerance test were also normal. A jejunal biopsy was contemplated but not done. A sweat chloride was ordered but adequate sweat was not obtained. Chromosomes were normal (46,XX). A diagnosis of RussellSilver syndrome was suggested based on short stature, triangular face, and clinodactyly (Fig. 1). No specific treatment was recommended. At age 14 years she was referred to the Section of Gastroenterology because of a 2 month history of vomiting, diarrhea, and weight loss. She had hypoalbuminemia, microcytic hypochromic anemia with low serum iron and ferritin, increased hydrogen peroxide fragility, (64 vs 1%in control), a bone age 1.5 SD below her chronologic age, a n abnormal D-xylose tolerance test (1 h r after a 5 g test dose, blood xylose was 0.016 mmoli literi1.73 m2 vs normal of 0.6-1.3 mmol/literil.73 m2), and increased fat excretion of 14.7% of intake (normal 4%). Three attempts a t analysis of sweat chloride failed because of inadequate sweat. HLA haplotypes were A l , A3; B8 w6; DR3, w52, DQw31. Ajejunal biopsy showed villous atrophy. Introduction of a gluten-free diet dramatically improved her nutritional status and abolished her gastrointestinal symptoms. Previously abnormal tests, including D-xylose absorption, normalized. Rechallenge with gluten is planned in the future. Although her weight improved, her height remained below the 5th centile. Menarche occurred a t
FloatingHarbor Syndrome
Fig. 1. Patient HF at age 6 years. Note triangular face, apparently low-set, large ears.
1510/izyears. Because of her small stature and peculiar facies, she was referred to the Section of Clinical Genetics for reassessment and diagnosis. At age 15 years she was a short, shy, and mildly unusual appearing young lady. Her height was 139 cm (
Brief Clinical Report Floating-Harbor Syndrome and Celiac Disease Albert E. Chudley and Stanley P. Moroz Departments of Pediatrics and Child Health and H u m a n Genetics, University of Manitoba, and the Sections of Clinical Genetics (A .EL‘.) and Pediatric Gastroenterology (S.P.M.), Children’s Hospital, Winnipeg, Manitoba, Canada
We report on a 17-year-oldyoung woman with a speech impediment, developmental delay, short stature, and facial anomalies consistent with the Floating-Harbor syndrome (FHS).In addition, she has clinical and histological evidence of celiac disease, which was observed in 1 of the 6 previously reported cases of FHS, suggesting a possible association between the 2 conditions or pleiotropism of a presumed autosomal recessive disorder. KEY WORDS: malabsorption, celiac disease, short stature, speech and developmental delay, facial anomalies, Floating Harbor syndrome, autosomal recessive INTRODUCTION Robinson et al. [ 19881summarized the manifestations of 6 unrelated patients with a n apparently unique syndrome ofpeculiar face, short stature, and delayed speech development. The name Floating-Harbor syndrome (FHS) was suggested, since the first 2 cases were identified a t the Boston Floating Hospital and Harbor General Hospital, Torrance, California [Pelletier and Feingold, 1973; Leisti et al., 19741. Patient 6, in the report by Robinson et al. [1988], had celiac disease confirmed by intestinal biopsy. Nutritional status and abdominal distention improved after introduction of a gluten-free diet, but catch-up growth did not occur. We report on a patient with FHS who also has celiac disease. CLINICAL REPORT
HF was the ninth of 11 children born to healthy, nonconsanguineous parents of Canadian-Mennonite background. The father was 33 years and the mother
Received for publication November 10, 1989; revision received May 23, 1990. Address reprint requests to Dr. A.E. Chudley, Room FE231, Community Services Building, Children’s Hospital, 840 Sherbrook Street, Winnipeg, Manitoba R3A 1S1,Canada.
0 1991 Wiley-Liss, Inc.
was 32 years of age at the time of HF’s conception. An older brother was stillborn, a paternal female first cousin has cerebral palsy, and 2 brothers of the maternal grandfather were mentally retarded. Otherwise, the family history was unremarkable. Her sibs were of average height with good health and normal development. Her father was 175 cm and her mother was 154 cm tall. The pregnancy was normal and she weighed 2,300 g at term. She was small throughout infancy and childhood. Her motor development was essentially normal, but speech was delayed. Because of failure to thrive, short stature, recurring vomiting, abdominal distention, developmental delay, and peculiar face distinct from that of sibs and parents, she was seen by numerous pediatric specialists. Investigations a t age 30 months showed normal skull films with brachycephaly noted, and incidental fusion of the first and second anterior left ribs. At 30 months the bone age was 18 months. Thyroid function, gonadotrophin levels, and quantitative immunoglobulins were normal. Fat balance and D-XylOSe tolerance test were also normal. A jejunal biopsy was contemplated but not done. A sweat chloride was ordered but adequate sweat was not obtained. Chromosomes were normal (46,XX). A diagnosis of RussellSilver syndrome was suggested based on short stature, triangular face, and clinodactyly (Fig. 1). No specific treatment was recommended. At age 14 years she was referred to the Section of Gastroenterology because of a 2 month history of vomiting, diarrhea, and weight loss. She had hypoalbuminemia, microcytic hypochromic anemia with low serum iron and ferritin, increased hydrogen peroxide fragility, (64 vs 1%in control), a bone age 1.5 SD below her chronologic age, a n abnormal D-xylose tolerance test (1 h r after a 5 g test dose, blood xylose was 0.016 mmoli literi1.73 m2 vs normal of 0.6-1.3 mmol/literil.73 m2), and increased fat excretion of 14.7% of intake (normal 4%). Three attempts a t analysis of sweat chloride failed because of inadequate sweat. HLA haplotypes were A l , A3; B8 w6; DR3, w52, DQw31. Ajejunal biopsy showed villous atrophy. Introduction of a gluten-free diet dramatically improved her nutritional status and abolished her gastrointestinal symptoms. Previously abnormal tests, including D-xylose absorption, normalized. Rechallenge with gluten is planned in the future. Although her weight improved, her height remained below the 5th centile. Menarche occurred a t
FloatingHarbor Syndrome
Fig. 1. Patient HF at age 6 years. Note triangular face, apparently low-set, large ears.
1510/izyears. Because of her small stature and peculiar facies, she was referred to the Section of Clinical Genetics for reassessment and diagnosis. At age 15 years she was a short, shy, and mildly unusual appearing young lady. Her height was 139 cm (
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