WILLIAMS SYNDROME

-
WILLIAMS-BEUREN SYNDROME aka williams syndrome 

Deletion of elastin gene in chromosome 7

De novo mutation

ELFIN FACIES

10 Rare Diseases That Are Almost Like Super Powers | Williams ...


SUPRAVALVULAR STENOSIS - can have pulmonary aretery stenosis, renal artery stenosis, thoracic aorta stenosis 

SHORT STATURE

ENDOCRINOPATHY- HYPERCALCEMIA, HYPERCALCIURIA, DM AND SUBCLINICAL HYPOTHYROIDISM

CAKUT- CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT

Impaired cognition and development accompanied by a friendly, social personality -- TALKATIVE/LOCACIOUS PERSONALITY

LOW IQ BUT HIGH VERBAL IQ

AXIAL HYPOTONIA BUT APPENDICULAR HYPERTONIA WITH INCREASED DTRs in lower limbs

DIAGNOSIS- BY FISH (FLOURESCENT IN SITU HYBRIDISATION) BY DETECTING THE DELETED ELASTIN GENE.

DIAGNOTIC CRITERIA BY AAP



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