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Inspect the genitalia and note any abnormalities position of the urethral meatus, testicular swelling, absent testicle, fused labia• You cannot rely on palpation to exclude a cleft.

Excessive digital creases have been found in partial deletions of chromosome 1q [], partial trisomy of 13q [] and 14q [], cerebro-oculo-facio-skeletal COFS syndrome [], as well as in sickle cell anemia [].

Do babies with isolated single umbilical artery need routine post-natal renal ultrasonography? However, occasionally, the horizontal creases join together to form a single transverse palmar crease STPC.

[ ] While it is often found in persons with Down Syndrome, many who have this syndrome do not have this crease, and thus does not necessarily indicate Down Syndrome.

64093 SPARC related modular calcium bindin.

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Inspect the clitoris: to ensure it is a normal size.

The dark discoloration around the ankles are slate grey patches mongolian spots , not bruises.

Inspect for neck lumps: a lump in the left posterior triangle of the neck may represent a cystic hygroma.

The TCF4 protein has different functional domains, with the NLS nuclear localization signal domain coded by exons 7-8 and the[…] From Wikidata Jump to navigation Jump to search A syndrome characterized by classical lissencephaly and distinct facial features.