{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T17:53:40Z","timestamp":1791136420281,"version":"4.1.0"},"reference-count":23,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2007,5,15]],"date-time":"2007-05-15T00:00:00Z","timestamp":1179187200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2007,6,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>In this report, we describe a brother and sister who presented at birth with short\u2010limb skeletal dysplasia, polyhydramnios, prematurity, and generalized edema. Dysmorphic features included broad nose, thick ears, thin lips, micrognathia, inverted nipples, ulnar deviation at the wrists, spatulate fingers, fifth finger camptodactyly, nail hypoplasia, and talipes equinovarus. Other features included short stature, microcephaly, psychomotor retardation, B\u2010cell lymphopenic hypogammaglobulinemia, sensorineural deafness, retinal detachment and blindness, intestinal malrotation with poor gastrointestinal motility, persistent hyponatremia, intermittent hypoglycemia, and thrombocytopenia. Cardiac anomalies included PDA, VSD, hypertrophic cardiomyopathy, and arrhythmias. The brother had a small penis with hypospadias, hypoplastic scrotum, and non\u2010palpable testes. Skeletal findings included absent ossification of cervical vertebral bodies, pubic bones, knee epiphyses, and tali. Both sibs died before age 2 years, one of overwhelming sepsis and the other of cardiorespiratory failure associated with her cardiomyopathy. Metabolic studies showed a type 1 pattern of abnormal serum transferrin glycosylation. Fibroblasts synthesized truncated LLOs, primarily Man<jats:sub>7<\/jats:sub>GlcNAc<jats:sub>2<\/jats:sub>, suggestive of CDG\u2010Ig. Both sibs were compound heterozygotes for a novel 301 G\u2009&gt;\u2009A (G101R) mutation and a previously described 437 G\u2009&gt;\u2009A (R146Q) mutation in <jats:italic>ALG12<\/jats:italic>. Congenital disorders of glycosylation should be considered for children with undiagnosed multi\u2010system disease including neurodevelopmental delay, skeletal dysplasia, immune deficiency, male genital hypoplasia, and cardiomyopathy. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31791","type":"journal-article","created":{"date-parts":[[2007,5,15]],"date-time":"2007-05-15T21:33:45Z","timestamp":1179264825000},"page":"1371-1378","source":"Crossref","is-referenced-by-count":80,"title":["Expanding spectrum of congenital disorder of glycosylation Ig (CDG\u2010Ig): Sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality"],"prefix":"10.1002","volume":"143A","author":[{"given":"Christian","family":"Kranz","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alice 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