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Shprintzen–Goldberg syndrome: Fourteen new patients and a clinical analysis
Author(s) -
Robinson Peter N.,
Neumann Luitgard M.,
Demuth Stephanie,
Enders Herbert,
Jung Ursula,
König Rainer,
Mitulla Beate,
Müller Dietmar,
Muschke Petra,
Pfeiffer Lutz,
Prager Bettina,
Somer Mirja,
Tinschert Sigrid
Publication year - 2005
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30431
Subject(s) - medicine , camptodactyly , arachnodactyly , hypotonia , hypertelorism , scoliosis , pathognomonic , pectus excavatum , genu valgum , palpebral fissure , joint hypermobility , anatomy , pediatrics , marfan syndrome , surgery , pathology , disease
The Shprintzen–Goldberg syndrome (SGS) is a disorder of unknown cause comprising craniosynostosis, a marfanoid habitus and skeletal, neurological, cardiovascular, and connective‐tissue anomalies. There are no pathognomonic signs of SGS and diagnosis depends on recognition of a characteristic combination of anomalies. Here, we describe 14 persons with SGS and compare their clinical findings with those of 23 previously reported individuals, including two families with more than one affected individual. Our analysis suggests that there is a characteristic facial appearance, with more than two thirds of all individuals having hypertelorism, down‐slanting palpebral fissures, a high‐arched palate, micrognathia, and apparently low‐set and posteriorly rotated ears. Other commonly reported manifestations include hypotonia in at least the neonatal period, developmental delay, and inguinal or umbilical hernia. The degree of reported intellectual impairment ranges from mild to severe. The most common skeletal manifestations in SGS were arachnodactyly, pectus deformity, camptodactyly, scoliosis, and joint hypermobility. None of the skeletal signs alone is specific for SGS. Our study includes 14 mainly German individuals with SGS evaluated over a period of 10 years. Given that only 23 other persons with SGS have been reported to date worldwide, we suggest that SGS may be more common than previously assumed. © 2005 Wiley‐Liss, Inc.