[source]
pmid = PMID:24403049
title = Congenital disorder of fucosylation type 2c (LADII) presenting with short stature and developmental delay with minimal adhesion defect
[diagnosis]
disease_id = OMIM:266265
disease_label = Congenital disorder of glycosylation, type IIc
[text]
Our patients are two brothers, now 21 (Proband 1) and 19 (Proband 2) years of age, born to non-consanguineous
parents of British heritage with unremarkable family history. The pregnancies and births were uncomplicated.
Proband 1 had a birth weight of 2.5 kg (<2nd %) and length of 49.5 cm (60th %), and Proband 2 had a birth
weight of 3.0 kg (25th %) and length of 51 cm (70th %). Their 13-year-old sister has had normal growth and development.
The brothers have global developmental delay; however, expressive language and cognition are the more significant
challenges. Proband 1 currently has an ∼150 word vocabulary, speaking in three word phrases with echolalia;
he has anxiety and is on the autism/pervasive developmental disorder spectrum. Proband 2 has less global delays,
milder autistic features and obsessive–compulsive disorder.
Their past medical history is significant for multiple episodes of otitis media as infants which responded to oral
antimicrobial therapy. Neither had placement of tympanostomy drainage tubes, but Proband 2 had an adenoidectomy
secondary to episodic sinus infections. Proband 1 had a hospitalization at age 12 weeks for bronchiolitis and
at age 10 months for a febrile seizure, but otherwise neither brother had any serious infections.
Comprehensive endocrine and metabolic evaluation revealed normal serum IGF-I and IGFBP-3 levels,
plasma amino acids, urine amino acids and organic acids, urine sialic acid, mucopolysaccharides and urine
oligosaccharides. Chromosomal microarrays showed no copy number variants or areas with loss of heterozygosity.
Notably, white blood cell counts and absolute neutrophil counts were within the normal range on two occasions
(Supplementary Material, Table S1) and both brothers had the O+ blood type.
Phenotypically, both brothers have short stature with heights of −2.8 and −3.3 standard deviations,
coarse facial features with a bulbous nose, widow's peak, small hands and feet with brachydactyly and
persistent fetal finger pads (Fig. 1).