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Summary: Speech and language in Simpson-Golabi-Behmel syndrome: a case report: Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked disorder caused by a mutation of the glypican-3 gene. The physical characteristics associated with SGBS have been documented in several papers, but information on the behavioral phenotype is scarce. We report on the speech and language characteristics in an 8 year-old-boy with SGBS. The boy performed very well on formal language tests but he also demonstrated poor pragmatic skills. Speech was characterized by a distorted articulation, distorted resonance, fluency failures, and a stereotype prosody. Many more case descriptions are necessary to delineate the full range of the behavioral phenotype of SGBS.
Key words: Simpson-Golabi-Behmel syndrome - Speech - Language - Behavioral phenotype
INTRODUCTION
Simpson-Golabi-Behmel syndrome (SGBS) (MIM 312870), also called Simpson dysmorphia syndrome, is an X-linked disorder caused by a mutation of the glypican-3 gene. Its main characteristics include a pre-and postnatal macrosomia, typical facial features (a "coarse face", a prominent philtrum, low-set and posteriorly angulated ears, abnormal pinnae, hypertelorism, epicanthal folds, downslanting palpebral fissures, a short and broad nose, a large mouth and thin upper lip, an abnormally large tongue, a high-arched or cleft palate), and also variable visceral, skeletal and neurological abnormalities. The prevalence of SGBS is not known. Since the first descriptions by Simpson et al. in 1975 (14) and later accounts by Golabi and Rosen (7) and by Behmel et al. (3) in 1984, the physical characteristics associated with SGBS have now been documented in several papers. Information on the behavioral phenotype is scarce, however. This paper reports on the speech and language characteristics as observed in an 8 year-old-boy with SGBS. As far as we could ascertain, this is the first report on speech and language in SGBS.
CASE REPORT
CLINICAL HISTORY
The propositus, AB, a boy, is the second child of non-consanguineous, healthy parents. Pregnancy was complicated by transient bleeding from the placenta at 16 weeks. He was born at 37 weeks of gestation after uncomplicated delivery. Basic anthropometry at birth: weight 4.0 kg, length 54 cm, head circumference 45 cm. The familial history is uneventful and a three year older sister developed normally without clinical abnormalities.
Clinical evaluation of the newborn revealed, next to the overt macrosomia, a postaxial hexadactyly...