**Question:** A child presents with antimongoloid slant, pulmonary stenosis, short stature, and undescended testis. The likely diagnosis is-

A. Turner syndrome
B. Klinefelter syndrome
C. DiGeorge syndrome
D. Prader-Willi syndrome

**Core Concept:**

Antimongoloid slant refers to the flattening of the forehead and upwardslanting palpebral fissures, which are characteristic features of certain genetic disorders. Pulmonary stenosis is a condition in which the pulmonary valve is narrowed, restricting blood flow from the heart to the lungs. Short stature and undescended testis are also common manifestations in certain genetic disorders.

**Why the Correct Answer is Right:**

C. DiGeorge syndrome (also known as 22q11.2 deletion syndrome) is a genetic disorder caused by a deletion in chromosome 22. This syndrome is characterized by various abnormalities, including antimongoloid slant, pulmonary stenosis, short stature, and hypoplasia of the thymus and parathyroid glands, resulting in hypocalcemia.

**Why Each Wrong Option is Incorrect:**

A. Turner syndrome (45,X karyotype) is characterized by short stature, webbed neck, and other features, but antimongoloid slant and pulmonary stenosis are uncommon.
B. Klinefelter syndrome (47,XXY karyotype) typically presents with gynecomastia, microcephaly, and infertility, but antimongoloid slant and pulmonary stenosis are less common.
D. Prader-Willi syndrome (15q11-q13 deletion or imprinting defect) is characterized by severe hypotonia, feeding difficulties, and mental retardation, but antimongoloid slant, pulmonary stenosis, and short stature are less common.

**Clinical Pearl:**

DiGeorge syndrome is a critical diagnosis to consider in a child presenting with antimongoloid slant, pulmonary stenosis, short stature, and undescended testes. Recognizing this syndrome is crucial for appropriate genetic counseling, management, and monitoring of the child's growth and development, as well as for genetic counseling of the family.