Oligodontia

Oligodontia is a rare developmental dental anomaly in humans characterized by the absence of six or more teeth.

Brachydactyly

Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.


Total: 2

                       


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PMID (PMCID)
19938091
 MIXED_SAMPLE Infant, Newborn
Pseudoaminopterin syndrome: clinical report with new characteristics.
Sobreira N, Cernach M, Batista D, Brunoni D, Perez A.
Am J Med Genet A. 2009;149A(12):2843-8.
She has short stature, microcephaly, broad forehead with high hair implantation; sparse and fine hair, areas of alopecia; arched eyebrows with upturned hair, synophris; ocular hypertelorism, epicanthal folds, palpebral ptosis; oligodontia; low-set and small ears with hypoplasia of antihelices; brachydactyly, clinodactyly of both 4th and 5th fingers; hypoplasia of the 4th metacarpal and clinodactyly of the 4th and 5th toes; overlap of the second over the third toe; bilateral hip luxation; patent foramen ovale; left posterior diaphragmatic hernia, absence of spleen and horseshoe kidney.
8279493
 MALE Child
Uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly: report of a new patient with additional findings.
Silengo M, Lerone M, Romeo G, Calcagno E, Martucciello G, Jasonni V.
Am J Med Genet. 1993;47(6):931-3.
The syndrome consisted of hypotrichosis with the typical SEM (scanning electron microscopy) changes of uncombable hair, retinal pigmentary dystrophy, juvenile cataract, oligodontia, brachydactyly with brachymetacarpia; it was inherited as an autosomal dominant trait.