Retinoblastoma

A rare eye tumor disease representing the most common intraocular malignancy in children. It is a life threatening neoplasia but is potentially curable and it can be hereditary or non hereditary, unilateral or bilateral.

Ambiguous genitalia

A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4.

Total: 2

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PMID (PMCID)
29518772	FEMALE	Infant, Newborn
	Two Cases with Ring Chromosome 13 at either End of the Phenotypic Spectrum.
	Cakmakl S, Cankaya T, Gursoy S, Koc A, Krbyk O, Klcarslan OA, Ozer E, Ercal D, Bozkaya OG. Cytogenet Genome Res. 2017;153(4):175-180.
	Major clinical features of patients with ring chromosome 13 include growth and developmental retardation, microcephaly, facial dysmorphism, ambiguous genitalia, anal atresia, eye malformations, retinoblastoma, and hand, foot, and toe abnormalities.
20105145	MALE	Infant, Newborn
	13q33.2 deletion: a rare cause of ambiguous genitalia in a male newborn with growth restriction.
	Andresen JH, Aftimos S, Doherty E, Love DR, Battin M. Acta Paediatr. 2010;99(5):784-786.
	13q deletion is a rare cause of ambiguous genitalia in the male newborn, and can be associated with mental retardation of varying degree, retinoblastoma, and malformations of the brain, eye, genitourinary and gastrointestinal tract, depending on the level of the deletion.