β Scribed by Kim, Sunghoon; Idowu, Olijire; Chen, Emily
No coin nor oath required. For personal study only.
We describe an infant with Simpson-Golabi-Behmel syndrome (SGBS) with a new manifestation, choledochal cyst. He is a new member of our previously reported family with the syndrome [Chen et al., 1993;Golabi and Rosen, 1984]. The phenotype of SGBS is further elaborated, and the pathogenesis of choledochal cyst is discussed. Simpson et al. [1975], Behmel et al. [1984], and Golabi and Rosen [1984] reported on an X-linked syndrome, characterized by pre-and postnatal overgrowth and dysplastic changes in several tissues. Neri et al. [1988] suggested this condition be named Simpson-Golabi-Behmel syndrome. SGBS comprises polyhydramnios, overgrowth, cleft lip and palate, cardiac and skeletal abnormalities, supernumerary nipples, diaphragmatic hernia, and polydactyly. Gastrointestinal abnormalities such as pyloric stenosis, Meckel diverticulum, omphalocele, and malrotation have been reported. In childhood, gross motor and language delays may occur, which usually improve. There may be mental retardation.
The 38-week-old male infant (Fig. 1) was born at term to a 35-year-old gravida 5 para 4 mother. SGBS was suspected prenatally because of the family history and prenatal ultrasound findings of polyhydramnios, macrosomia (fetal weight estimated 99%), doublebubble sign suggestive of duodenal atresia, bilateral clubfeet and visualization of a penis indicating male gender. Birth weight was 3,630 g (75%), length 55 cm (97%), and head circumference 34.5 cm (25%). The infant had a "coarse" facial appearance, large anterior fontanel (4 Γ 4 cm), vertical furrows between eyebrows, interpupillary distance 5 cm (> 97%), slightly downslanted palpebral fissures, wide high nasal bridge, prominent nose with wide short philtrum, bifid uvula but no cleft lip or palate, and macrostomia. He had low-set, large floppy ears measuring 4.4 cm (> 97%).
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The Simpson-Golabi-Behmel syndrome (SGBS) is an overgrowth/multiple congenital anomalies/dysplasia syndrome caused by a mutant X-linked gene. The spectrum of its clinical manifestations is broad, varying from very mild forms in carrier females to infantile lethal forms in affected males. A typically
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