A case of Carpenter syndrome diagnosed in a 20-week-old fetus with postmortem examination

Autor:	T. Haytoglu, Sevim Balci, Muzaffer Eryilmaz, B Onol
Rok vydání:	2008
Předmět:	Adult medicine.medical_specialty Pediatrics Acrocephalosyndactylia Autopsy Craniofacial Abnormalities Craniosynostoses Pregnancy Prenatal Diagnosis Internal medicine Genetics medicine Humans Genetics (clinical) Ultrasonography Fetus business.industry Dysostosis medicine.disease Carpenter syndrome Abortion Spontaneous Endocrinology Pregnancy Trimester Second Cerebral malformations Acrocephalopolysyndactyly type II Female Congenital disease business
Zdroj:	Clinical Genetics. 51:412-416
ISSN:	1399-0004 0009-9163
Popis:	Carpenter syndrome (acrocephalopolysyndactyly type II) is an autosomal recessive syndrome. The case we present was diagnosed prenatally at 20 weeks. Postmortem examination revealed severe central nervous system malformations. The central nervous system anomalies in this 23-week-old fetus merit emphasis, since these anomalies in such a young fetus may explain Carpenter syndrome cases, which do not improve in spite of early surgical intervention.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68fa4bfaf95db0611b7d3039bce56ad4 https://doi.org/10.1111/j.1399-0004.1997.tb02501.x Zobrazit plný text záznamu Plný text