Hip pathology in Majewski osteodysplastic primordial dwarfism type II.
BACKGROUND
Majewski osteodysplastic primordial dwarfism type II (MOPDII) is characterized by severe prenatal and postnatal growth failure with microcephaly, characteristic skeletal dysplasia, an increased risk for cerebrovascular disease, and insulin resistance. MOPDII is caused by mutations in the pericentrin (PCNT) gene and is inherited in an autosomal-recessive manner. This study aimed to determine the incidence of hip pathology in patients with molecularly confirmed MOPDII and to describe the functional outcomes of surgical treatment.


METHODS
Thirty-three enrolled patients had a clinical diagnosis of MOPDII. Biallelic PCNT mutations or absent pericentrin protein was confirmed in 25 of these patients. Twelve patients (7 female) had appropriate clinical and radiographic records at this institution and were included in this study. The data collected included age at presentation, age at surgery, sex, body weight and height, weight-bearing status at diagnosis, and the clinical examination.


RESULTS
Four patients (31%) had coxa vara: 3 unilateral and 1 bilateral. Three unilateral patients had in situ pinning at a mean age 4 years. The patient with bilateral coxa vara had valgus osteotomy at the age of 5 years. Two children had bilateral hip dysplasia and subluxation with no surgery. One patient had bilateral developmental hip dislocations. The patient was treated by open reduction-spica cast and 2 years after surgery, coxa valga was noted. Another patient was diagnosed at an age of 12 years with bilateral avascular necrosis of the hips. Four patients did not have hip pathology.


CONCLUSIONS
Hip pathology is common among children with MOPDII; coxa vara is the most frequent diagnosis. Routine clinical and radiographic hip evaluation is important. The capital femoral epiphysis appears to slip down along the shaft, giving the appearance of a proximal femoral epiphysiolysis. A hip diagnosed with slipped capital femoral epiphysis in early life may progress to severe coxa vara.


METHODS
Level IV.
Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE.
Ali F
AF
Karatas
Michael B
MB
Bober
Kenneth
K
Rogers
Angela L
AL
Duker
Colleen P
CP
Ditro
William G
WG
Mackenzie
D000293:Adolescent; D000941:Antigens / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D060905:Coxa Vara / Q000601:surgery*; D004392:Dwarfism / Q000235:genetics / Q000473:pathology* / Q000601:surgery; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics / Q000473:pathology* / Q000601:surgery; D006618:Hip Dislocation, Congenital / Q000601:surgery; D006621:Hip Joint / Q000601:surgery; D006801:Humans; D008297:Male; D008831:Microcephaly / Q000235:genetics / Q000473:pathology* / Q000601:surgery; D009154:Mutation; D010009:Osteochondrodysplasias / Q000235:genetics / Q000473:pathology* / Q000601:surgery; D010027:Osteotomy; D055815:Young Adult
D000941:Antigens; C086178:pericentrin