Pyknoachondrogenesis

Alternate names

Association of skeletal defects resembling achondrogenesis with generalized bone sclerosis

Definition

A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.

Epidemiology

The disease is very rare and only five cases (four males and one female) have been reported in the literature so far.

Cause

• 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.

Signs and symptoms

• 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.

Diagnosis

• 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.

Differential diagnosis Achondrogenesis is the main differential diagnosis.

Prognosis

Pyknoachondrogenesis has a lethal outcome, either prenatally or during the early neonatal period.

NIH genetic and rare disease info

• NIH info on Pyknoachondrogenesis

Pyknoachondrogenesis is a rare disease.

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