Table 1.

Comparison of clinical data of missense variants in NSDHL gene

Clinical features	Other missense variants in NSDHL gene [8]	Proband
Ipsilateral CHILD nevus	both diffuse and wide spread involvement of trunk, thigh and groin area	continuous involvement of neck trunk, upper arm, hand including web spaces groin, upper thigh and right foot.
Laterality	ipsilateral, contralateral lesions and bilateral lesions are also reported [9]	ipsilateral lesions confined to the right side with strict midline demarcation
Ipsilateral extracutaneous defects	hypoplasia of arm, leg, foot, pelvis and skull	hypoplasia of upper limb with simple syndactyly of all fingers with nail changes of the right hand. Aplastic femoral head, length of right leg shorter than the left leg and normal foot.
Visceral abnormalities	ipsilateral visceral abnormalities	absent right (ipsilateral) kidney. ultra sound scan of brain- asymmetrical ventriculomegaly (L > R)
Hearing defects and vocal cord involvement	observed in some cases	not observed