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Acrofacial dysostosis type Rodríguez.
Am J Med Genet A. 2005 May 15; 135(1):81-5.AJ

Abstract

The acrofacial dysostoses (AFD) are a clinically and causally heterogeneous group of conditions characterized by mandibulofacial dysostosis and a variety of limb anomalies. Several abnormalities affecting different internal organs and the central nervous system (CNS) have been described. Depending on the type of limb defects, two major groups have been delineated: (1) with predominantly pre-axial anomalies, Nager type AFD, and (2) with predominantly post-axial involvement, Genee-Wiedemann form of AFD, also known as POADS, respectively. Other forms of "true AFD" have been described as Kelly, Reynolds, Arens (also Tel Aviv form), Rodríguez (or Madrid form), Richieri-Costa, and Patterson-Stevenson-Fontaine types. However, whether they are distinct entities or represent variants of the same condition remains unclear. Rodríguez AFD was described as a new lethal form of AFD in three affected sibs with severe mandibular hypoplasia, severe predominantly pre-axial limb deficiencies, absent fibulae and ribs, and internal organ anomalies, the most remarkable of which are arrhinencephaly and abnormal lung lobulation. We present a newborn girl with Rodríguez type of AFD, who died a few days after the birth due to respiratory failure. The phenotype and the cause of this condition are discussed.

Authors+Show Affiliations

Center for Human Genetics, University Hospital Gasthuisberg, University of Leuven, Herestraat 49, 3000 Leuven, Belgium.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

15793832

Citation

Dimitrov, Boyan, et al. "Acrofacial Dysostosis Type Rodríguez." American Journal of Medical Genetics. Part A, vol. 135, no. 1, 2005, pp. 81-5.
Dimitrov B, Balikova I, Jekova N, et al. Acrofacial dysostosis type Rodríguez. Am J Med Genet A. 2005;135(1):81-5.
Dimitrov, B., Balikova, I., Jekova, N., Vakrilova, L., Fryns, J. P., & Simeonov, E. (2005). Acrofacial dysostosis type Rodríguez. American Journal of Medical Genetics. Part A, 135(1), 81-5.
Dimitrov B, et al. Acrofacial Dysostosis Type Rodríguez. Am J Med Genet A. 2005 May 15;135(1):81-5. PubMed PMID: 15793832.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Acrofacial dysostosis type Rodríguez. AU - Dimitrov,Boyan, AU - Balikova,Irina, AU - Jekova,Nely, AU - Vakrilova,Lilija, AU - Fryns,Jean-Pierre, AU - Simeonov,Emil, PY - 2005/3/29/pubmed PY - 2005/6/1/medline PY - 2005/3/29/entrez SP - 81 EP - 5 JF - American journal of medical genetics. Part A JO - Am J Med Genet A VL - 135 IS - 1 N2 - The acrofacial dysostoses (AFD) are a clinically and causally heterogeneous group of conditions characterized by mandibulofacial dysostosis and a variety of limb anomalies. Several abnormalities affecting different internal organs and the central nervous system (CNS) have been described. Depending on the type of limb defects, two major groups have been delineated: (1) with predominantly pre-axial anomalies, Nager type AFD, and (2) with predominantly post-axial involvement, Genee-Wiedemann form of AFD, also known as POADS, respectively. Other forms of "true AFD" have been described as Kelly, Reynolds, Arens (also Tel Aviv form), Rodríguez (or Madrid form), Richieri-Costa, and Patterson-Stevenson-Fontaine types. However, whether they are distinct entities or represent variants of the same condition remains unclear. Rodríguez AFD was described as a new lethal form of AFD in three affected sibs with severe mandibular hypoplasia, severe predominantly pre-axial limb deficiencies, absent fibulae and ribs, and internal organ anomalies, the most remarkable of which are arrhinencephaly and abnormal lung lobulation. We present a newborn girl with Rodríguez type of AFD, who died a few days after the birth due to respiratory failure. The phenotype and the cause of this condition are discussed. SN - 1552-4825 UR - https://www.unboundmedicine.com/medline/citation/15793832/Acrofacial_dysostosis_type_Rodríguez_ L2 - https://doi.org/10.1002/ajmg.a.30673 DB - PRIME DP - Unbound Medicine ER -