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BMJ Case Reports 2016-Aug

Goltz syndrome: a rare case of father-to-daughter transmission.

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Vishal Gupta
Himabindu Saginatham
Sudheer Arava
Gomathy Sethuraman

Ključne riječi

Sažetak

An 8-year-old girl presented to us with skin-coloured to yellowish soft compressible papules, intermixed with hypopigmented and hyperpigmented macules in a Blaschkoid pattern, and 'lobster-claw deformity' affecting her bilateral feet. Additional examination findings included short stature, facial asymmetry, low-set ears, hypodontia, enamel hypoplasia, tonsillar enlargement and spina-bifida occulta at S1-3 vertebral level. A diagnosis of Goltz syndrome was suspected clinically, which was confirmed on skin biopsy. Her father also had hypopigmented and hyperpigmented macules in a Blaschkoid distribution, 'lobster-claw' deformity and kyphoscoliosis. None of the other family members were affected.

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