Microcephalic osteodysplastic primordial dwarfism- type 1
Overview
Microcephalic osteodysplastic primordial dwarfism, type 1: A form of dwarfism associated with brain and skeletal abnormalities. The clinical and radiological findings in a pair of sibs with microcephalic osteodysplastic primordial dwarfism (MOPD) are described, a boy who survived for 5 1/2 years and his more severely affected younger sister, who died at the age of 6 months. Neuropathological studies in this girl showed marked micrencephaly with severely hypoplastic, poorly gyrated frontal lobes and absent corpus callosum. Our observation supports the hypothesis that types I and III MOPD probably constitute a spectrum of one and the same entity and published data together with this report are consistent with autosomal recessive inheritance. The pathogenesis of this condition is as yet unknown, but its characteristics indicate a basic defect affecting cell proliferation and tissue differentiation.
Symptoms
The list of signs and symptoms mentioned in various sources for Microcephalic osteodysplastic primordial dwarfism, type 1 includes the 10 symptoms listed below: * Low birth weight * Dwarfism * Small head * Bulging eyes * Spade-like hands * Convulsions * Cyanotic attacks * Brain abnormalities * Absent corpus callosum * Skeletal abnormalities Note that Microcephalic osteodysplastic primordial dwarfism, type 1 symptoms usually refers to various symptoms known to a patient, but the phrase Microcephalic osteodysplastic primordial dwarfism, type 1 signs may refer to those signs only noticable by a doctor.
Causes
Other Possible Causes of these Symptoms * Brain abnormalities * Bulging eyes * Convulsions * Cyanotic attacks * Dwarfism * Low birth weight * Skeletal abnormalities * Small head
Diagnosis
Routine studies should include a CBC, sedimentation rate, urinalysis, chemistry panel, thyroid profile, VDRL test, quantitative stool fat, a sweat test, and x-rays of the skull and long bones. If Turner's syndrome is suspected, a buccal smear for sex chromogen may be done. If pituitary dwarfism is suspected, a CT scan of the skull may be helpful. Additional endocrine tests include a serum growth hormone level before and after exercise, a resting somatomedin-C level, and an overnight dexamethasone suppression test. In patients suspected of having rickets and hypoparathyroidism, 24-hr urine calciums may be done. However, it is best to consult a pediatrician, endocrinologist, or orthopedic surgeon before proceeding with expensive diagnostic tests.