Letter to the Editor

Congenital Heart Disease in Robinow Syndrome

To the Editor:

Robinow syndrome comprises fetal face appearance,genital hypoplasia, and limb shortness, particularly ofthe forearms. It exists in both autosomal dominant andautosomal recessive forms [Teebi, 1990; Robinow,1993]. Heart malformations are common in patientswith Robinow syndrome [Pfeiffer and Muller, 1971;Kelly et al., 1975; Portnoy, 1979; Bain et al., 1986; But-ler and Wadlington, 1987; Jewett and Hoyme, 1989;Wiens et al., 1990; Atalay et al., 1993; Sabry et al.,1997]. We describe a patient with Robinow syndromeand multiple congenital heart defects that included

double outlet right ventricle (DORV), subaortic ven-tricular septal defect (VSD), infundibular and valvarpulmonary stenosis (PS), and a patent ductus arterio-sis (PDA), and we review the literature to documentthe frequency and type of congenital heart disease inRobinow syndrome.

The patient was a male infant born at full term to ahealthy G2P0A1 mother by spontaneous vaginal deliv-ery. He was noted to have an abnormal facial appear-ance and cyanosis with minimal respiratory distress inthe first few hours of life. His parents were phenotypi-cally normal and of South Eastern Asian origin. Theyare nonconsanguineous and their family history is un-

*Correspondence to: Dr. Ahmad S. Teebi, The Montreal Chil-dren’s Hospital, Division of Medical Genetics, Room A-608, 2300Tupper Street, Montreal, Quebec, H3H 1P3, Canada.

Received 27 October 1997; Accepted 4 March 1998

Fig. 1. a: Typical fetal face appearance with frontal bossing and prominent eyes. b: Relatively short upper and lower limbs, underdeveloped externalgenitalia, and sternotomy scar.

American Journal of Medical Genetics 77:332–333 (1998)

© 1998 Wiley-Liss, Inc.

remarkable. Examination at 6 weeks of age showed arelatively large head with an occipitofrontal circumfer-ence (OFC) of 37.5 cm (58 centile), a weight of 3 kg (<3centile), and a total body length of 50.5 cm (3 centile).He had frontal bossing and fetal face appearance thatincluded wide palpebral fissures and prominent eyes,hypertelorism, depressed nasal bridge with short nose,anteverted nares and long philtrum, triangular mouthwith thick alveolar ridge and narrow palate, posteri-orly angulated ears, and fleshy ear lobules (Fig. 1A).Both upper and lower limbs were relatively short. Theshortness is predominantly mesorhizomelic. His peniswas very small and the scrotum was underdeveloped(Fig 1B).

On auscultation he had a normal S1, a single loudS2, and a grade 4/6 harsh ejection systolic murmurwith maximal intensity at 2nd left intercostal spacenear the sternal border; diastole was clear. The radio-graph showed abdominal situs solitus, levocardia withboot-shaped cardiac silhouette, left aortic arch, andsmall lung volumes. The electrocardiogram showed si-nus rhythm, absence of normal R-wave transition onthe precordial leads with absent Q-wave in V6 suggest-ing right ventricular hypertrophy. Two-dimensionalechocardiography demonstrated atrial situs solitus,normal systemic and pulmonary venous drainage, se-cundum atrial septal defect (ADS), DORV with a singleanterior malalignment VSD, severe infundibular andvalvar PS, and a PDA. Right and left cardiac catheter-ization confirmed the diagnosis. On day 5 of life heunderwent primary intraventricular tunnel repair ofthe DORV with resection of the infundibular and val-var PS, enlargement of the right ventricular outflowtract and main pulmonary artery with a pericardialtransannular patch, repair of the left pulmonary arterystenosis, and PDA division and partial closure of the

secundum ASD. He is currently doing well and gainingweight. His psychomotor development assessed at 6months, 1 year, and 2 years was appropriate.

Of the approximately 75 published cases of Robinowsyndrome, 12 cases (16%) including ours have someform of cardiac malformation (Table I). More than 50%of patients with Robinow syndrome (7 of 12, includingour patient) have heart malformations with right ven-tricular outflow obstruction. The finding of DORV inour patient and that of Sabry et al. [1997] suggests thatother forms of congenital heart disease sharing thesame embryological origin (i.e., the failure to achieveformal conotruncal rotation) like other transposition ofthe great arteries complexes, can be expected in pa-tients with Robinow syndrome [Goor and Edwards,1973].

REFERENCESAtalay S, Ege B, Mamoglu A, Suskin E, Ocal B, Gumus H (1993): Congen-

ital heart disease and Robinow syndrome. Clin Dysmorphol 3:208–210.

Bain MD, Winter RM, Burn J (1986): Robinow syndrome without meso-melic ‘‘brachymelia’’: A report of five cases. J Med Genet 23:350–354.

Butler MG, Wadlington WB (1987): Robinow syndrome: Report of two pa-tients and review of literature. Clin Genet 31:7–85.

Goor DA, Edwards JE (1973): The spectrum of transposition of the greatarteries with specific reference to developmental anatomy of the conus.Circulation 48:406–415.

Jewett T, Hoyme HE (1989): Fetal face, cleft palate and digital anomalieswith normal stature and associated heart defects: Further delineationof the Robinow syndrome or a distinct entity? Proc Greenwood GenetCtr 8:203–204.

Kelly TE, Benson R, Temtamy S, Plotnick L, Levin S (1975): The Robinowsyndrome with a detailed study of the phenotype. Am J Dis Child129:383–386.

Pfeiffer RA, Muller H (1971): Complex of multiple malformations in twounrelated children. Pediatr Pathol 6:262–267.

Portnoy Y (1979): Robinow syndrome. Clin Pediatr 18:707–708.

Robinow M (1993): The Robinow (fetal face) syndrome, a continuing puzzle.Clin Dysmorphol 2:189–198.

Sabry MA, Ismael EAR, Al-Naggar RL, Al-Torki NA, Farah SA, Al-AwadiSA, Obenbergerova D, Bastaki L (1997): Unusual traits associated withRobinow syndrome. J Med Genet 34:736–740.

Teebi AS (1990): Autosomal recessive Robinow syndrome. Am J Med Genet35:64–68.

Webber SA, Wargowski DS, Chitayat D, Sander EG (1990): Congenitalheart disease and Robinow syndrome: Coincidence or an additionalcomponent of the syndrome? Am J Med Genet 37:519–521.

Wiens SL, Strickland DK, Snifen B, Warady BA (1990): Robinow syn-drome: Report of two patients with kidney disease. Clin Genet 37:481–484.

Jameel Al-AtaMarc PaquetDivision of Pediatric CardiologyMontreal Children’s HospitalMcGill University MontrealQuebec, Canada

Ahmad S. Teebi*Division of Medical GeneticsThe Montreal Children’s HospitalMcGill University MontrealQuebec, Canada

TABLE I. Congenital Heart Disease in Robinow Syndrome*

Authors Cardiac findings

Pfeiffer and Muller[1971]

Ejection click and ejection murmurat the left sternal edge—? largeaorta—no specific diagnosis made

Portnoy [1979] ASDBain et al. [1986] TOFButler and Wadlington

[1987]Coarctation of aorta and bicuspid

aortic valveJewett and Hoyme

[1989]Case 1 Severe PS, peripheral PS, subaortic

VSDCase 2 PS, TR, VSD

Webber et al. [1990] PA, PDA, VSDWiens et al. [1990] PDAAtalay et al. [1993] TA type 1aSabry et al. [1997]

Case 2 PS, TA, ASD, VSD, DORV rightatrial isomerism

Present study Subaortic VSD, infundibular andvalvular PS, PDA, DORV

*PA, pulmonary atresia; TA, Tricuspid atresia; TOF, Tetralogy of Fallot.

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