NOONAN SYNDROME

-

Introduction

Autosomal Dominant condition 

Ras-MAPK pathway Defect 

Due to mutation in 

    PTPN11 protein-tyrosine phosphatase,non-receptor-type 11) gene on chromosome 12. 

    10–15% are caused by SOS1 (son of seven-less homologue 1 (Drosophila), on

    chromosome and RAF1

NS is often associated with advanced paternal age 

Karyotype is usually normal.

Male: Female - 4:1



Phenotypically looks like Turner

So if male and looks like Turner think of Noonan. 

Clinical Features 

Cardiovascular

    Pulmonary valve stenosis (Most common)

    Hypertrophic cardiomyopathy 

    Branch pulmonary artery stenosis

    Septal defects 

Musculoskeletal

    Webbed or short neck

    Pectus excavatum or carinatum

    Wide-spaced nipples

    Wide carrying angle (cubitus valgus)

    Short stature in 80%

Triangular facies

Antimongoloid slant

Hypertelorism 

Low set ears and posteriorly rotated

Comments

Post a Comment

Popular posts from this blog

TURNER SYNDROME

-
Image
What is the other name of Turner Syndrome? Ullrich-Turner syndrome  What is the m/c sex chromosome disorder in female? Turner syndrome and occurs in approximately 1 in 2000 to 1 in 2500 live female births. What are the genotypes of Turner syndrome? 45X monosomy in 45% of cases  45X mosaicism with normal cell line in 15% cases  X chromosome anomalies like - Isochromosome, Ring chromosome, Xp or Xq deletion Y chromosome mosaicism in 10-12% cases. What gene is responsible for short stature in Turner syndrome? SHOX (short stature homeobox-containing gene on the X-chromosome) is associated with short stature in Turner syndrome and in Leri-Weill dyschondrosteosis. What gene is responsible for gonadal insufficiency in Turner syndrome? BMP15 (bone morphogenetic protein 15 (BMP15) on the short arm of the X chromosome (Xp)). What is the frequency of the 45X karyotype at conception? 3% approx, but  99% of these are spontaneously aborted, accounting for 5–10% of all abortuses. Mosaics are found to
Read more

HYPOTHYROIDISM CLINICAL FEATURES

-
Image
     1.       What are the clinical features of congenital hypothyroidism in a newborn? The clinical manifestations are commonly subtle in newborns with congenital hypothyroidism (CH).   Newborns with CH may be asymptomatic because of presence of maternal T 4 (which contributes to approximately one-third of circulating T 4 in a newborn) and residual functioning thyroid tissue.   FEATURES AT BIRTH   The classical symptoms of congenital hypothyroidism include ·          lethargy, ·          hoarse cry, ·          feeding difficulty, ·          constipation not responding to treatment, and increased somnolence.   The characteristic signs of CH include ·          Prolonged neonatal jaundice, ·          Macroglossia, ·          Umbilical hernia, ·          Wide posterior fontanelle, ·          Hypotonia, ·          Dry skin, ·          Head circumference may be slightly increased d/t myxedema of brain ·          Hypothermia. ·          Hirsute for
Read more

Congenital Hypertrophic Pyloric Stenosis

-
Image
What are the parts of pylorus? The incisura angularis divides the stomach into a body to the left and a pyloric portion to the right. The sulcus intermedius further divides the pyloric portion of the stomach: the pyloric vestibule to the left, denoted by an outward convexity of the greater curvature. The pyloric antrum or pyloric canal to the right The pyloric antrum is 2.5 cm and terminates in pyloric orifice into duodenum.   What happens to the normal anatomical structural in CHPS? In infants with IHPS, the pyloric ring is no longer identifiable as a clearly definable separation between the normally distensible pyloric antrum and the duodenal cap. Instead, a channel of variable length (1.5–2.0 cm) corresponding to the pyloric canal separates the normally distensible portion of the antrum from the duodenal cap. ·          Infantile hypertrophic pyloric stenosis  was first fully described by  Harald Hirschsprung  in 1888. ·          IHPS VS CHPS - ????? IHPS is would b
Read more