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Acrofacial dysostosis syndrome type Rodriguez: prenatal diagnosis and autopsy findings.
Am J Med Genet A. 2007 Dec 15; 143A(24):3286-9.AJ

Abstract

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.

Authors+Show Affiliations

The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

18000904

Citation

Sermer, David, et al. "Acrofacial Dysostosis Syndrome Type Rodriguez: Prenatal Diagnosis and Autopsy Findings." American Journal of Medical Genetics. Part A, vol. 143A, no. 24, 2007, pp. 3286-9.
Sermer D, Quercia N, Chong K, et al. Acrofacial dysostosis syndrome type Rodriguez: prenatal diagnosis and autopsy findings. Am J Med Genet A. 2007;143A(24):3286-9.
Sermer, D., Quercia, N., Chong, K., & Chitayat, D. (2007). Acrofacial dysostosis syndrome type Rodriguez: prenatal diagnosis and autopsy findings. American Journal of Medical Genetics. Part A, 143A(24), 3286-9.
Sermer D, et al. Acrofacial Dysostosis Syndrome Type Rodriguez: Prenatal Diagnosis and Autopsy Findings. Am J Med Genet A. 2007 Dec 15;143A(24):3286-9. PubMed PMID: 18000904.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Acrofacial dysostosis syndrome type Rodriguez: prenatal diagnosis and autopsy findings. AU - Sermer,David, AU - Quercia,Nada, AU - Chong,Karen, AU - Chitayat,David, PY - 2007/11/15/pubmed PY - 2008/1/3/medline PY - 2007/11/15/entrez SP - 3286 EP - 9 JF - American journal of medical genetics. Part A JO - Am J Med Genet A VL - 143A IS - 24 N2 - 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. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/18000904/Acrofacial_dysostosis_syndrome_type_Rodriguez:_prenatal_diagnosis_and_autopsy_findings_ L2 - https://doi.org/10.1002/ajmg.a.32021 DB - PRIME DP - Unbound Medicine ER -