I am/have/hadhearing loss
The goal of this registry is to collect information on individuals with Microcephalic Osteodysplastic Primordial Dwarfism Type II (also called MOPDII) and other forms of microcephalic primordial
Hypo-mineralization of Primary and Permanent Teeth in a Group of Children With Stunted Growth.A Cross Sectional Study.
The second primary molar (SPM) development start at the same time as development of the first permanent molars (FPM) and permanent incisors so any systemic disturbance - causing stunted growth -occur , will result in hypo-mineralization of SPM as well as FPM and permanent incisors (Butler 1967, Weerheijm and Mejre …
Background Some growth disorders are caused by a change in genes. Genes are the instructions the body uses to function. Changes in genes often cause them not to work correctly. Researchers want to use a new technology called exome sequencing, to look at many genes at once. This is done …
, short stature, and bowing of the long bones. There is no known cure for OI so researchers want to learn more about it. Objectives To obtain a natural history of the
Skeletal Muscle Effects of GH in Boys
deficiency or idiopathic short stature. Patients will be similarly short. The investigators will also compare these values in the short stature cohort to those obtained in testing performed in normally
AVAST Anomalies Vasculaires Associ es au Syndrome de Turner (Vascular Abnormalities Associated With Turner Syndrome)
Turner syndrome is a genetic condition, rare, due to the total or partial absence of one X chromosome, affecting 1/2500 newborn female. It combines almost constantly short stature and ovarian
Iodine Status in Pregnant Women and Their Newborns: is Congenital Hypothyroidism Related to Iodine Deficiency in Pregnancy?
Iodine is an essential component of thyroid hormone, which is necessary for many metabolic processes as well as the maturation of the CNS. Deficiencies of iodine have deleterious effects on both pregnant women and infants. The iodine status of the population after implementation of the universal salt iodization program in …
An Observational/Natural History Study of Cockayne Syndrome
This is an Observational Study of pediatric patients diagnosed with Cockayne Syndrome (CS) to assess the natural progression of that disease, with special attention to hearing and physical changes in length or height, weight, head circumference, and arm span during "standard-of-care" treatment. A portion of this information will be collected …