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Frontofacionasal dysplasia: evidence for autosomal recessive inheritance.
Am J Med Genet. 1984 Oct; 19(2):301-5.AJ

Abstract

We report on a 2-month-old girl whose parents are first cousins. The patient has severe craniofacial anomalies characterized by: encephalocele, hypertelorism, midface hypoplasia, hypoplasia of frontal bone on the left side, malformed left eye, absent inner eyelashes, irregular S-shaped palpebral fissures, deformed nostrils, hypoplastic right nasal wing and cleft lip, and clefts of premaxilla, palate and uvula. No other malformations were observed. This association of anomalies suggests the diagnosis of frontofacionasal dysplasia. Parental consanguinity suggests autosomal recessive inheritance.

Authors

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Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

6439039

Citation

Gollop, T R., et al. "Frontofacionasal Dysplasia: Evidence for Autosomal Recessive Inheritance." American Journal of Medical Genetics, vol. 19, no. 2, 1984, pp. 301-5.
Gollop TR, Kiota MM, Martins RM, et al. Frontofacionasal dysplasia: evidence for autosomal recessive inheritance. Am J Med Genet. 1984;19(2):301-5.
Gollop, T. R., Kiota, M. M., Martins, R. M., Lucchesi, E. A., & Alvarenga Filho, E. (1984). Frontofacionasal dysplasia: evidence for autosomal recessive inheritance. American Journal of Medical Genetics, 19(2), 301-5.
Gollop TR, et al. Frontofacionasal Dysplasia: Evidence for Autosomal Recessive Inheritance. Am J Med Genet. 1984;19(2):301-5. PubMed PMID: 6439039.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Frontofacionasal dysplasia: evidence for autosomal recessive inheritance. AU - Gollop,T R, AU - Kiota,M M, AU - Martins,R M, AU - Lucchesi,E A, AU - Alvarenga Filho,E, PY - 1984/10/1/pubmed PY - 1984/10/1/medline PY - 1984/10/1/entrez SP - 301 EP - 5 JF - American journal of medical genetics JO - Am. J. Med. Genet. VL - 19 IS - 2 N2 - We report on a 2-month-old girl whose parents are first cousins. The patient has severe craniofacial anomalies characterized by: encephalocele, hypertelorism, midface hypoplasia, hypoplasia of frontal bone on the left side, malformed left eye, absent inner eyelashes, irregular S-shaped palpebral fissures, deformed nostrils, hypoplastic right nasal wing and cleft lip, and clefts of premaxilla, palate and uvula. No other malformations were observed. This association of anomalies suggests the diagnosis of frontofacionasal dysplasia. Parental consanguinity suggests autosomal recessive inheritance. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/6439039/Frontofacionasal_dysplasia:_evidence_for_autosomal_recessive_inheritance_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1984&volume=19&issue=2&spage=301 DB - PRIME DP - Unbound Medicine ER -