Helmuth G. Dörr

TL;DR: Using genetic linkage analysis, the authors found that mutations in the centrosomal pericentrin (PCNT) gene on chromosome 21q22.3 cause microcephalic osteodysplastic primordial dwarfism type II (MOPD II) in 25 patients.

TL;DR: BMI values, compared with population-based references, for children and adolescents with CAH were analyzed and leptin levels were correlated positively with chronologic age and the relative risk of having a BMI SDS of >2.0 was not significantly elevated among children with prednisone/dexamethasone medication,Compared with those with hydrocortisone treatment.

TL;DR: This report reports on the first known patient with a small de novo interstitial deletion restricted to the WHSCR who presented with a partial WHS phenotype consisting only of low body weight for height, speech delay, and minor facial anomalies; shortness of stature, microcephaly, seizures and mental retardation were absent.

TL;DR: Females with Ullrich‐Turner syndrome have typical clinical features such as short stature, ovarian failure, visible dysmorphic stigmata, and abnormalities in different organs such as kidney or heart.

TL;DR: M‐GCTs are strongly associated with precocious puberty in young boys with Klinefelter syndrome, and a karyotype analysis should be included in the clinical work‐up of boys with Precocious puberty and M‐G CT.