Congenital diaphragmatic hernia

Congenital diaphragmatic hernia (CDH) is a posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension with high mortality.

Adactyly

The absence of all phalanges of all the digits of a limb and the associated soft tissues.


Total: 2

                       


(per page)
PMID (PMCID)
29575631
 FEMALE Infant
Biallelic loss-of-function WNT5A mutations in an infant with severe and atypical manifestations of Robinow syndrome.
Birgmeier J, Esplin ED, Jagadeesh KA, Guturu H, Wenger AM, Chaib H, Buckingham JA, Bejerano G, Bernstein JA.
Am J Med Genet A. 2018;176(4):1030-1036.
Through trio whole genome sequencing, we identified a homozygous frameshifting single nucleotide deletion in WNT5A in a previously reported, deceased infant with a unique constellation of features comprising a 46,XY disorder of sex development with multiple congenital malformations including congenital diaphragmatic hernia, ambiguous genitalia, dysmorphic facies, shortened long bones, adactyly, and ventricular septal defect.
25898814
(4896393)
 MIXED_SAMPLE Infant, Newborn
46,XY disorders of sex development and congenital diaphragmatic hernia: a case with dysmorphic facies, truncus arteriosus, bifid thymus, gut malrotation, rhizomelia, and adactyly.
Esplin ED, Chaib H, Haney M, Martin B, Homeyer M, Urban AE, Bernstein JA.
Am J Med Genet A. 2015;167(6):1360-4.
46,XY disorders of sex development and congenital diaphragmatic hernia: a case with dysmorphic facies, truncus arteriosus, bifid thymus, gut malrotation, rhizomelia, and adactyly.