Severe Short Stature in Two Siblings as the Presenting Sign of ACP5 Deficiency.

ABSTRACT:

Background

ACP5 deficiency is known to cause spondyloenchondrodysplasia (SPENCD), which is characterized by various autoimmune and neurological symptoms in addition to short stature.

Methods

Two siblings from a consanguineous Turkish family, a girl aged 13 years (P1) and a boy aged 8 years (P2), presented to their endocrinologist with progressive growth failure and severe short stature (-5 SDS). They had no comorbid conditions and, on physical examination, there were no signs of an overt skeletal dysplasia with normal appearance of extremities. Other than a low baseline IGF-1, extensive laboratory workup, including growth hormone stimulation and IGF-1 generation tests, was normal. Exome sequencing was performed.

Results

Exome sequencing identified the presence of a ho

SUBMITTER: de Bruin C 

PROVIDER: S-EPMC4891295 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature