Craniomicromelic syndrome: A newly recognized lethal condition with craniosynostosis, distinct facial anomalies, short limbs, and intrauterine growth retardation | Zendy

Barr Mason | Zendy; Heidelberger Kathleen P. | Zendy; Comstock Christine H. | Zendy

Open Access

Craniomicromelic syndrome: A newly recognized lethal condition with craniosynostosis, distinct facial anomalies, short limbs, and intrauterine growth retardation

Author(s) -

Barr Mason,

Heidelberger Kathleen P.,

Comstock Christine H.

Publication year - 1995

Publication title -

american journal of medical genetics

Language(s) - English

Resource type - Journals

eISSN - 1096-8628

pISSN - 0148-7299

DOI - 10.1002/ajmg.1320580409

Subject(s) - craniosynostosis , growth retardation , medicine , pediatrics , anatomy , endocrinology , biology , genetics , pregnancy

We report on two sisters with an unusual form of craniosynostosis, protruding nasal spine, micrognathia, short limbs, lung hypoplasia, absent or hypoplastic gallbladder, short intestine with ileal distention, hypoplastic uterus, and intrauterine growth retardation. This combination of defects appears to be a newly recognized and probably autosomal recessive disorder. © 1995 Wiley‐Liss, Inc.

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