Ontology highlight
ABSTRACT:
SUBMITTER: Giampietro PF
PROVIDER: S-EPMC5484633 | biostudies-literature | 2013 Jun
REPOSITORIES: biostudies-literature
Giampietro Philip F PF Baker Mei W MW Basehore Monica J MJ Jones Julie R JR Seroogy Christine M CM
American journal of medical genetics. Part A 20130423 6
A male child with clinical features consistent with EEC/EECUT plus syndrome (ectrodactyly, ectodermal dysplasia, clefting, urinary tract abnormalities, and thymic abnormalities) including mild ectodermal abnormalities, ectrodactyly of hands and feet, cleft palate, bilateral hydronephrosis, and T cell lymphopenia is reported. He was noted to have T cell receptor excision circle (TREC) analysis below the cutoff for normal on newborn screening and T cell lymphopenia on further immunologic evaluatio ...[more]