Bindewald et al. [1994]
reported on a consanguineous Pakistani family with four individuals affected variably with tetralogy of Fallot, minor facial anomalies, and severe mental and growth retardation. We report on a Romanian child presenting with an identical pattern of anomalies.
The propositus was hospitalized for recurrent otitis media at the age of 4 years and 4 months. He came from a foster home and there were no data available on his parents. On examination his weight was 8,000 g (<3rd centile), length 79 cm (<3rd centile), and head circumference 43 cm (<3rd centile). He had large, protruding, abnormally modeled ears, a high forehead, strabismus, broad nasal root, small tip of nose, thin upper lip (Fig. 1) and a high palate. He had bilateral cryptorchidism and syndactyly of second and third toes (Fig. 2). Fingernails and toenails were clubbed. Auscultation revealed a sistolic murmur at the upper left sternal border. Severe delay in psychomotor development was obvious: he was not able to sit without support, verbal comprehension was absent. During hospital treatment he had paroxysms of intense cyanosis with hyperpnea.
Cardiac evaluation documented: infundibular pulmonic stenosis, large ventricular septal defect and dextroposition of the aorta. Repeated serum cholesterol measurements showed 145 and 152 mg/dl, respectively (reference range for age 4-6 years: 109-189 mg/dl). Determination of serum 7dehydrocholesterol was not possible. Cytogenetic analysis showed a normal 46,XY karyotype.
The pattern of anomalies: heart defect, growth and mental retardation, microcephaly, syndactyly of second and third toes suggested the diagnosis of Smith-Lemli-Opitz syndrome. However, our patient [as well as the cases reported by Bindewald et al., 1994] had a facial appearance quite different from that of SLO patients: they lacked bitemporal narrowing, epicanthal folds, broad nasal tip, broad alveloar ridges, but presented with large, protruding, abnormally modeled ears. Cryptorchidism, but no hypospadias was present in our case and one case presented in the former report. Although SLO patients may have serum cholesterol levels in the normal range, there exists an inverse correlation between the cholesterol levels and the severity of clinical manifestations [Tint et al., 1995;Cunniff et al., 1997]. The serum cholesterol level in our case was found to be in the mean range of reference values, in association with severe failure to thrive and profound mental retardation. Besides, as pointed out by Bindewald et al.
[1994] tetralogy of Fallot is an uncommon finding in SLO syndrome.