Medicine:Crane-Heise syndrome
The Crane-Heise syndrome is a very rare and lethal birth defect without a known cause. It was first described in a 1981 publication, and its main signs are facial malformations, lack of bone mineralization, and musculoskeletal anomalies.[1]
Symptoms
According to a 2011 publication that summarizes the nine known cases, the leading symptoms are:
- restricted intrauterine growth
- craniofacial malformation
- lacking mineralization of the calvarium (skull without the lower jaw)
- cleft lip or palate
- small jaws (micrognathism)
- abnormally large distance between the eyes (hypertelorism)
- malformation of the ears
- feet malposition
- absent clavicles
- genitourinary malformations[2]
Aetiology and differential diagnosis
The clustering of the cases suggests an autosomal recessive disorder (see genetical dominance). In the aminopterin-syndrome sine aminopterin syndrome (ASSAS), a poorly mineralized calvarium is present, too, but many other tell-tale symptoms of Crane-Heise are lacking. A similar disease is cleidocranial dysplasia, but this is an autosomal dominant disease caused by mutations in the RUNX2 gene – and such mutations have not been found in Crane-Heise cases. Chromosomal abnormalities are also absent in the Crane-Heise syndrome.[2]
Diagnosis
As the cause is still unknown, the only diagnostic is ultrasound, which can detect a lack of skull mineralization by the 10th week of pregnancy.[2]
References
- ↑ Crane, James; Heise, Robin (1981-08-01). "New syndrome in three affected siblings". Pediatrics. PMID 7267231.
- ↑ 2.0 2.1 2.2 Petit, Florence; Devisme, Louise (2011). "Crane-Heise syndrome: Two further case reports". European Journal of Medical Genetics. doi:10.1016/j.ejmg.2010.11.004.
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