Primordial Dwarfism
Synonyms: Microcephalic Osteodysplastic Primordial Dwarfism, MOPD
Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: clinical report and review of cerebral vascular anomalies. Source/Author: Brancati F, Castori M, Mingarelli R, Dallapiccola B. Abstract Article indicating that in patients with MOPD type II there is a 25% risk for cerebral vascular anomaly and should be screened for using CNS vascular imaging.
Majewski Osteodysplastic Primordial Dwarfism Type II (MOPD II) Syndrome Previously Diagnosed as Seckel Syndrome: Report of a Novel Mutation of PCNT Gene Source/Author: Piane M, Della Monica M, Piatelli G, Lulli P, Lonardo F, Chessa L, Scarano G. Abstract Article discussing that PCNT mutations are diagnostic of MOPD II. Full text article can be obtained by contacting [email protected]
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I Source/Author: OMIM, Online Mendelian Inheritance in Man Web-based (medical) Medical/Scientific description of MOPD, type I, with emphasis on the genetics of the condition
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE III Source/Author: OMIM, Online Mendelian Inheritance in Man Web-based (medical) Medical/Scientific description of MOPD, type III, with emphasis on the genetics of the condition
Primordial Dwarfism Source/Author: Scott, Charles; Alfred I. duPont Hospital for Children/Nemours Medical Review Excellent overview of primordial dwarfism including: how it happens, its genetics, physical features, diagnosis, medical management, social aspects, physical accommodations,etc.
PrimordialDwarfism.com Source/Author: Parents of Children with Primordial Dwarfism, in conjunction with Drs. Charles Scott and Judy Hall Support Group A site dedicated to educating and supporting families affected by Primordial Dwarfism. Medical and educational information as well as contacts to families.
Seckel Syndrome Source/Author: National Organization of Rare Diseases Web-based (medical) Brief description of the clinical features/characteristics, medical complications and genetics of this condition
Seckel syndrome Source/Author: Geneva Foundation for Medical Education and Research Web-based (medical) Photographs and fetal ultrasound images of individuals with Seckel syndrome. Links to journal articles on this condition.
Seckel syndrome Source/Author: Laurence Faivre and Valerie Cormier-Darie; Orphanet Web-based (medical) Detailed overview of this condition in medical terminology.
osteodysplastic primordial dwarfism Source/Author: Jablonski Syndromes Database Web-based (medical) Summary, clinical features, and medical bibliography.
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