American Journal of Medical Genetics 37519-521 (1990)
Brief Clinical Report Congenital Heart Disease and Robinow Syndrome: Coincidence or an Additional Component of the Syndrome? Steven A. Webber, David S. Wargowski, David Chitayat, and George G.S. Sandor Departments of Pediatrics (Division of Cardiology) (S.A.W., G.G.S.S.) and Medical Genetics (D.S.W.,D.C.), British Columbia Children’s Hospital and The University of British Columbia, Vancouver, Canada
We report on a girl with Robinow syndrome and pulmonary atresia with ventricular septal defect (VSD). Seven cases of Robinow syndrome with congenital heart defect (CHD)have now been described, 5 of whom had stenosis or atresia of the pulmonic valve. This suggests that CHD, especially right ventricular outlow obstruction, may be a component manifestation of this syndrome in some cases. Since early recognition of this type of heart lesion can minimize morbidity by facilitating optimal surgical therapy, thorough cardiac evaluation of all patients with Robinow syndrome seems warranted. KEY WORDS: Robinow syndrome, congenital heart defect, pulmonic stenosis INTRODUCTION Fbbinow syndrome is a rare inherited disorder characterized by a typical facial appearance (“fetal face”), hypoplastic genitalia, and often, though not invariably, mesomelic brachymelia and short stature [Robinow et al., 1969; Butler and Wadlington, 19871. Congenital heart defect has not been considered a n important component of this syndrome, although Jewett and Hoyme [ 19891 have considered the possibility that the presence of CHD could represent evidence of heterogeneity. We describe a child with Fbbinow syndrome and cyanotic congenital heart disease and review the cardiac findings in the 42 previously reported cases.
CLINICAL REPORT L.W. was born at term after a normal pregnancy to a 34year-old mother and an unrelated 32-year-oldfather, both of whom were healthy. The family history was unremarkable. Birth weight was 3,030 g (25th centile), length 48 cm
Received for publication October 2,1989; revision received December 19, 1989. Address reprint requests to S.A. Webber, Department of Pediatrics, Division of Cardiology, B.C. Children’s Hospital, 4480 Oak Street, Vancouver, British Columbia, Canada V6H 3V4.
0 1990 Wiley-Liss, Inc.
(25th centile), and OFC 34 cm (50th centile). Multiple minor facial anomalies were noted a t birth (Fig. 1). She had a round, flat face with frontal bossing and large anterior and posterior fontanelles, a glabellar nevus flammeus, malar hypoplasia, hypertelorism, small ears with overfolded helices, a small nose with anteverted nares and a flat bridge, a downturned mouth, retrognathia, and a short neck. The nipples were widely spaced, and a short systolic murmur was noted a t the left sternal border. The clitoris and labia minora were hypoplastic, and a sacral dimple was present. There was rhizomelic brachymelia of upper limbs (proximal portion 7.5 cm in length, ~ 3 r d centile; forearm 7.5 cm, 50th centile), with stubby hands and bilateral clinodactyly of the 4th and 5th digits. There was mesomelic brachymelia of the lower limbs (distal segment 9.0 cm in length;
Brief Clinical Report Congenital Heart Disease and Robinow Syndrome: Coincidence or an Additional Component of the Syndrome? Steven A. Webber, David S. Wargowski, David Chitayat, and George G.S. Sandor Departments of Pediatrics (Division of Cardiology) (S.A.W., G.G.S.S.) and Medical Genetics (D.S.W.,D.C.), British Columbia Children’s Hospital and The University of British Columbia, Vancouver, Canada
We report on a girl with Robinow syndrome and pulmonary atresia with ventricular septal defect (VSD). Seven cases of Robinow syndrome with congenital heart defect (CHD)have now been described, 5 of whom had stenosis or atresia of the pulmonic valve. This suggests that CHD, especially right ventricular outlow obstruction, may be a component manifestation of this syndrome in some cases. Since early recognition of this type of heart lesion can minimize morbidity by facilitating optimal surgical therapy, thorough cardiac evaluation of all patients with Robinow syndrome seems warranted. KEY WORDS: Robinow syndrome, congenital heart defect, pulmonic stenosis INTRODUCTION Fbbinow syndrome is a rare inherited disorder characterized by a typical facial appearance (“fetal face”), hypoplastic genitalia, and often, though not invariably, mesomelic brachymelia and short stature [Robinow et al., 1969; Butler and Wadlington, 19871. Congenital heart defect has not been considered a n important component of this syndrome, although Jewett and Hoyme [ 19891 have considered the possibility that the presence of CHD could represent evidence of heterogeneity. We describe a child with Fbbinow syndrome and cyanotic congenital heart disease and review the cardiac findings in the 42 previously reported cases.
CLINICAL REPORT L.W. was born at term after a normal pregnancy to a 34year-old mother and an unrelated 32-year-oldfather, both of whom were healthy. The family history was unremarkable. Birth weight was 3,030 g (25th centile), length 48 cm
Received for publication October 2,1989; revision received December 19, 1989. Address reprint requests to S.A. Webber, Department of Pediatrics, Division of Cardiology, B.C. Children’s Hospital, 4480 Oak Street, Vancouver, British Columbia, Canada V6H 3V4.
0 1990 Wiley-Liss, Inc.
(25th centile), and OFC 34 cm (50th centile). Multiple minor facial anomalies were noted a t birth (Fig. 1). She had a round, flat face with frontal bossing and large anterior and posterior fontanelles, a glabellar nevus flammeus, malar hypoplasia, hypertelorism, small ears with overfolded helices, a small nose with anteverted nares and a flat bridge, a downturned mouth, retrognathia, and a short neck. The nipples were widely spaced, and a short systolic murmur was noted a t the left sternal border. The clitoris and labia minora were hypoplastic, and a sacral dimple was present. There was rhizomelic brachymelia of upper limbs (proximal portion 7.5 cm in length, ~ 3 r d centile; forearm 7.5 cm, 50th centile), with stubby hands and bilateral clinodactyly of the 4th and 5th digits. There was mesomelic brachymelia of the lower limbs (distal segment 9.0 cm in length;
