PMC3566490_01
Clinical data: (a) pedigree of the family showing no consanguinity and no family history, (b) photographic profile for the baby's face showing sparse scalp hairs, (c) photograph for the baby's feet showing marked shortening, sharpening of both big toes, with hallux valgus deformities, and (d) para-vertebral hard swellings more on the left side.
CRIM.GENETICS2013-834605.001.jpg
PMC3566490_01_CRIM.GENETICS2013-834605.001.jpg
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Patient had sparse scalp hair (Figure 1(b)) and was generally well apart from the limited trunk and neck flexibility with clumsy gait and repeated fall down, hard swellings were noticed in the left thoracic cage and back (Figure 1(d)), the old ones were painless and presumed to be present since birth, and the new ones were painful. Systematic examination was irrelevant apart from the marked shortening and sharpening of both big toes with bilateral hallux valgus deformity (Figure 1(c)), and parents stressed that these malformations were present since birth with no family history of similar condition. The child was full term and born to a nonconsanguineous couple (Figure 1(a)) by caesarean section, and developmental milestones were average for age.