These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Frontofacionasal dysplasia: evidence for autosomal recessive inheritance.
    Author: Gollop TR, Kiota MM, Martins RM, Lucchesi EA, Alvarenga Filho E.
    Journal: Am J Med Genet; 1984 Oct; 19(2):301-5. PubMed ID: 6439039.
    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.
    [Abstract] [Full Text] [Related] [New Search]