A recurrent pattern syndrome of craniosynostosis associated with arachnodactyly and abdominal hernias
Shprintzen, R.J.; Goldberg, R.B.
Journal of Craniofacial Genetics and Developmental Biology 2(1): 65-74
1982
ISSN/ISBN: 0270-4145 PMID: 6182156 Document Number: 190518
A new syndrome of craniosynostosis is described in two unrelated male children. Associated anomalies include severe exophthalmus; maxillary and mandibular hypoplasia; soft tissue hypertrophy of the palatal shelves; low-set ears with soft, pliable auricles; thoracic anomalies; multiple abdominal hernias; arachnodactyly; and camptodactyly. Functional disorders include infantile hypotonia, developmental delay, mental retardation, and obstructive apnea. Karyotypes were normal. An etiology for this recurrent pattern syndrome has not yet been established in the absence of a family history of similar anomalies in both cases.