Short rib polydactyly syndrome type I (Saldino-Noonan syndrome).
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Fatal Outcome↗
Biomedical subjects
Anoop Verma
Publications and source records attributed to Anoop Verma.
Proboscis lateralis.
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Abnormalities, Multiple↗
Jeune syndrome.
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Abnormalities, Multiple↗
Disorganization-like syndrome.
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Abnormalities, Multiple↗
Fibular hemimelia.
We report three cases with congenital longitudinal deficiency of fibula. Two cases were of Type IB and one was Type II.
Ectromelia↗
Congenital cutis laxa.
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Child, Preschool↗
Additional malformations in femoral hypoplasia: unusual facies syndrome.
This syndrome comprises of bilateral femoral hypoplasia and unusual facies comprises of short nose with broad tip, elongated philtrum, thin upper lip, small lower jaw, cleft palate and antimongolian slant of palpebral fissure. Etiology is idiopathic, sporadic, few families have been reported to have autosomal dominant inheritance. We report a case with the additional finding of unilateral complete aplasia of femur, encephalocele, complete cleft lip, bilateral absence of 5th metatarsal and toe and hypospadias. The mode of inheritance appears to be sporadic mutation in this case.
Abnormalities, Multiple↗