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Osteocraniostenosis

Orpha number ORPHA2763
Synonym(s) Gracile bone dysplasia
Osteocraniosplenic syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset Antenatal
Neonatal
ICD-10
  • Q78.0
ICD-O -
OMIM
UMLS
  • C1865639
MeSH -
MedDRA -

Summary

Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization.

First described in 1989, less than 30 cases have been reported so far.

This multiple congenital anomalies syndrome is characterized by dysmorphic features of the fetus and the newborn: the skull is misshapen, combining acrocephaly and cloverleaf deformity, fontanelles are very large; facial dysmorphism includes midface hypoplasia with telecanthus, short upturned nose, short philtrum, small inverted V-shaped mouth and low-set ears; limbs are also affected with bowed forearms, micromelia and acromicria with brachydactyly.

Etiology of osteocraniostenosis is not well known, but some histological findings report growth plate disorganization and adjacent diaphyseal ossification. Recently, heterozygous mutations of the FAM111A gene, encoding a protein of unknown function and responsible of some autosomal dominant forms of Kenny-Caffey syndrome (see this term) with hypothyroidism and slender and dense bone, have been identified in patients with osteocraniostenosis. A clinical and genetic heterogeneity remains likely.

Diagnosis is based mainly on radiological and pathological examination. Radiological examination reveals hypomineralisation of the skull, flat and dense vertebral bodies, thin tubular bones with flared and dense metaphyses, brachymetacarpia and brachyphalangy with ''diabolo appearance'' (very thin tubular bones with abrupt metaphyseal flare) and lack of ossification of the distal phalanges. The spleen is hypoplasic or even absent. Diaphyseal fractures are frequent at birth.

Differential diagnosis includes the hypo/akinesia sequence, Hallermann-Streiff-François syndrome, Kenny-Caffey syndrome and other slender bone dysplasias, and some cases of osteogenesis imperfecta with slender bones (see these terms).

Prenatal ultrasound observation reveals micromelic dwarfism, cranial deformity, mild intra-uterine growth retardation and sometimes fractures.

Cases with FAM111A gene mutations show an autosomal dominant mode of inheritance with a majority of de novo mutations.

There is no treatment for osteocraniostenosis.

Prognosis is very poor as most cases are stillborn or die in their first days of life.

Expert reviewer(s)

  • Dr Martine LE MERRER

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