ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome
نویسندگان
چکیده
منابع مشابه
Auralcephalosyndactyly: a new hereditary craniosynostosis syndrome.
A family is described in which craniosynostosis is associated with characteristic pinnae, a short columella, and symmetrical syndactyly of the fourth and fifth toes, inherited as an autosomal dominant condition. Various dominantly inherited syndromes involving craniosynostosis have been identified, but the constellation of findings in this family suggests a new syndrome different from those pre...
متن کاملCraniosynostosis
DESCRIPTION An 8-month-old baby boy presents with trigonocephaly and undergoes anterior cranial vault reconstruction for metopic craniosynostosis.
متن کاملCraniosynostosis.
Skull deformity in infants continues to be a diagnostic and therapeutic challenge. Deformational plagiocephaly is a common and somewhat benign cause of skull deformity in infants that must be distinguished from the more serious craniosynostosis, which occurs alone or as a syndrome. Examining an infant's head from above can help the physician distinguish true lambdoid synostosis from deformation...
متن کاملGenotypic and phenotypic analyses of Korean patients with syndromic craniosynostosis.
To the Editor : Craniosynostosis, the premature fusion of one or more cranial sutures, is a common malformation occurring in approximately 1 in 2500 live births (1), and ocular hypertelorism, proptosis, beaking of the nose and midface hypoplasia are the common facial features of the craniosynostosis (2, 3). The syndromic craniosynostosis is the hereditary form of craniosynostosis, which is asso...
متن کاملNonsyndromic craniosynostosis.
Nonsyndromic craniosynostosis is more commonly encountered than syndromic cases in pediatric craniofacial surgery. Affected children display characteristic phenotypes according to the suture or sutures involved. Restricted normal growth of the skull can lead to increased intracranial pressure and changes in brain morphology, which in turn may contribute to neurocognitive deficiency. Management ...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics Part A
سال: 2019
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.61073