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What is Dubowitz Syndrome? (Part 5)

Occasional features . . .
• Loose (hyperextensible) joints.

• Pilonidal dimple at the base of the spine.

• Excessively dry skin.

• Reduction of the fat layer beneath the skin (reduced subcutaneous fat) over the entire body such that the skin appears thin.

• Skin that is hypersensitive to sun.

• Multiple pigmented moles, or capillary hemangiomas (strawberry marks) which are harmless tumors composed of small blood vessels.

• Directional deviation of one eye from the other (strabismus) and crossed eye (estropia).

• Short fingers are common, and partial webbing of some of the fingers has been seen in addition to three cases of extra fingers (polydactyly). Several patients were said to have wide thumbs.

• Dental abnormalities have been reported, e.g., delayed tooth eruption, crowding, carious, fused or doubled teeth. Also reported: missing upper incisors in two patients (Paradisi et al. 1994 [18] and Dubowitz 1965 [31]); missing second molars in one (Moller and Gorlin 1985 [30]).

• Sunken chest due to depression of the breastbone (pectus excavatum, or prominent breastbone (pectus carinatum).

• Bronchial asthma.

For a comprehensive list of reported features see Tsukahara and Opitz (1996), Dubowitz Syndrome: Review of 141 Cases Including 36 Previously Unreported Patients [11].

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