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Acrofacial dysostosis syndrome type Rodriguez: Prenatal diagnosis and autopsy findings
Author(s) -
Sermer David,
Quercia Nada,
Chong Karen,
Chitayat David
Publication year - 2007
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.32021
Subject(s) - dysostosis , medicine , anatomy , autopsy , surgery , pathology , congenital disease
A new lethal form of acrofacial dysostosis (AFD) syndrome was delineated by Rodriguez et al. [Rodriguez et al. (1990); Am J Med Genet 35:484–489]. We report on a male fetus with mandibulofacial dysostosis, including phocomelia‐like upper limb deficiencies and lower limb anomalies which are characteristic of AFD Rodriguez type. The diagnosis was made on prenatal sonogram at 20 and at 24.1 weeks gestation. The severity of the upper limb defects, the involvement of lower limbs, and the absence of eyelid coloboma and polythelia excluded the possibility of other conditions associated with acrofacial dysostosis (AFD) including Nager acrofacial dysostosis syndrome (NADS) and postaxial acrofacial dysostosis syndrome (POADS). This case further delineates the AFD syndrome type Rodriguez. © 2007 Wiley‐Liss, Inc.