Morphologic observations in a case of lethal variant (type I) metatropic dysplasia with atypical features: morphology of lethal metatropic dysplasia.
Metatropic dysplasia accounts for approximately 5% of cases recorded by the International Skeletal Dysplasia Registry, with a single recorded lethal case. Four forms of the disease are currently recognized: type I, lethal autosomal recessive form; type II, nonlethal autosomal recessive form with survival to childhood; type III, autosomal dominant form with typical features, and type IV, a mild form with uncertain inheritance. The literature contains few well-documented reports of the histopathologic findings in metatropic dysplasia. In this report, we present the radiologic and histopathologic features in a cas e of type I metatropic dysplasia, with the unusual features of a persist ent tail, unique lung dysmorphology, and thyroidal agenesis.
O'Sullivan
M J
MJ
Department of Pathology, St. Louis Children's Hospital, Washington University Medical Center, MO 63110, USA.
McAllister
W H
WH
Ball
R H
RH
Teitelbaum
S L
SL
Swanson
P E
PE
Dehner
L P
LP
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology*; D000328:Adult; D000818:Animals; D005260:Female; D005270:Femur Head / Q000002:abnormalities; D005804:Genes, Lethal; D006132:Growth Plate / Q000002:abnormalities; D006801:Humans; D008168:Lung / Q000002:abnormalities; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology*; D011247:Pregnancy; D011263:Pregnancy Trimester, Third; D011859:Radiography; D013623:Tail / Q000002:abnormalities; D013961:Thyroid Gland / Q000002:abnormalities