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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 3003
A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.
The disease is very rare and only five cases (four males and one female) have been reported in the literature so far.
Pyknoachondrogenesis may be detected prenatally due to the extreme shortening of the limbs and hydrops fetalis, or is recognized at birth. The main clinical manifestations include a large head, palpebral edema, a flat nose, low-set ears, a short neck, a short and wide trunk, a prominent abdomen, and severe micromelic dwarfism.
Etiology remains unknown. Familial occurrence of affected sibs of both sexes points to an autosomal recessive pattern of inheritance but parental consanguinity has not been reported.
Diagnosis is based on clinical findings and typical radiographic features. X-rays show marked sclerosis of the facial bones and extremities, and poor ossification elsewhere.
Achondrogenesis (see this term) is the main differential diagnosis.
Prenatal diagnosis of pyknoachondrogenesis may be made by ultrasound.
Pyknoachondrogenesis has a lethal outcome, either prenatally or during the early neonatal period.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
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