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At a glance

Genetic disorder with craniofacial (craniosynostosis), neurologic, orthopedic, and dermatologic anomalies. The clinical features include short stature, failure to thrive, microencephaly, micrognathia, retrognathia, mild intellectual disabilities, and eczema.

Synonym

Intrauterine Dwarfism.

History

This medical condition was first described by Victor Dubowitz, an English physician, in 1965.

Incidence

The exact incidence remains unknown. It affects males and females in equal numbers. A 1996 report mentioned 141 confirmed cases. By 2002, the numbers had increased to over 200. The majority of cases have been reported from the United States, Germany, and Russia. However, the disorder is known to affect both genders and all ethnicities equally worldwide. It is suspected that the number of cases is not reflecting the true prevalence and this is most probably associated to a diagnostic error.

Genetic inheritance

It is inherited as autosomal recessive.

Pathophysiology

The precise mechanisms leading to the very wide phenotypic presentations of the syndrome remain to be determined.

Diagnosis

No biochemical characterization to confirm Dubowitz Syndrome is available. Diagnosis is based on clinical features (mainly facial appearance), which show a high variability and may result in underdiagnosis of the disorder.

Clinical aspects

Very high variety of combinations of multiple anomalies may be present, which is at least in part responsible for the difficulties in confirming the diagnosis. Intrauterine and postnatal growth retardation and delayed osseous maturation lead to (proportionate) short stature in approximately 80% of patients. Mental retardation ranges from mild (common) to severe (rare), but average intelligence has been reported. Patients are often described as hyperactive with a short attention span (67%), stubborn, and shy. Muscular hypotonia is common (40%). Seizures are rare. Craniofacial anomalies may include microcephaly (with head circumference below the third percentile), premature craniosynostosis, distinctive, small face with high forehead, flat supraorbital ridge, short palpebral fissures, scanty or absent lateral part of the eyebrows, lateral telecanthus, hypertelorism, epicanthal folds, ptosis, blepharophimosis, and other ocular anomalies (eg, strabismus, microphthalmia, iris hypoplasia, coloboma, and ocular albinism). The nasal tip is broad, and the ears are prominent or dysplastic. Micrognathia (may be severe) and retrognathia (rare), submucous cleft palate (44%), occasional velopharyngeal insufficiency, multiple dental problems (delayed eruption, missing teeth, extensive caries), and a high-pitched and hoarse voice (68%) have been described. Cardiovascular anomalies are rare but can occur in the form of coarctation of the aorta, aberrant subclavian artery (dysphagia lusoria), occlusion of the internal carotid artery, persistent ductus arteriosus, ventricular septal defect, and mitral valve prolapse. Patients often suffer from eczema (58%), which tends to improve with age, sparse hair, and pilonidal dimples. Brachyclinodactyly of the fifth finger is a constant feature, the joints are hyperextensible, and, patients occasionally present with scoliosis or ...

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