Total: 2 |
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PMID (PMCID) | ||
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27901041 |
MIXED_SAMPLE | Infant |
Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition. | ||
Kuechler A, Czeschik JC, Graf E, Grasshoff U, Huffmeier U, Busa T, Beck-Woedl S, Faivre L, Riviere JB, Bader I, Koch J, Reis A, Hehr U, Rittinger O, Sperl W, Haack TB, Wieland T, Engels H, Prokisch H, Strom TM, Ludecke HJ, Wieczorek D. Eur J Hum Genet. 2017;25(2):183-191. |
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to be overlapping with Bohring-Opitz syndrome - were developmental delay, severe feeding difficulties, failure to thrive and neurological abnormalities. | ||
19606480 |
FEMALE | Infant, Newborn |
Evolution of a patient with Bohring-Opitz syndrome. | ||
Pierron S, Richelme C, Triolo V, Mas JC, Griffet J, Karmous-Benailly H, Quere M, Kaname T, Lambert JC, Giuliano F. Am J Med Genet A. 2009;149A(8):1754-7. |
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We detailed the story from birth to the age of 5 years 9 months, of the oldest patient reported with a Bohring-Opitz syndrome with the three main diagnostic criteria: characteristic facial appearance, fixed contractures of the upper limbs and severe feeding difficulties. |