Absence of thumbs, A/hypoplasia of radius, hypoplasia of ulnae, retarded bone age, short stature, microcephaly, hypoplastic genitalia, and mental retardation

Dagmar Wieczorek*, Bernhard Köster, Gabriele Gillessen-Kaesbach

*Corresponding author for this work
    11 Citations (Scopus)

    Abstract

    The previously unreported combination of bilateral absence of thumbs, aplasia of ulna at one and hypoplasia of ulna on the other side, retarded bone age, short stature, microcephaly, micropenis, cryptorchidism, and mental retardation is described in a 5-year-old boy. Having excluded major differential diagnoses, e.g. Fanconi anemia, RAPADILINO syndrome and VACTERL association, we hypothesize that this boy represents a new multiple congenital anomaly/mental retardation (MCA/MR) syndrome.

    Original languageEnglish
    JournalAmerican Journal of Medical Genetics
    Volume108
    Issue number3
    Pages (from-to)209-213
    Number of pages5
    ISSN0148-7299
    DOIs
    Publication statusPublished - 15.03.2002

    Research Areas and Centers

    • Research Area: Medical Genetics

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