Thursday, March 18, 2010

Physical Appearances of Children 3/19/10

Physical Appearances of Children

Head and Neck Features

Frontal Bossing

-Basal cell nevus syndrome
-Congenital syphilis
-Cleidocranial dysostosis
-Crouzon syndrome
-Hurler syndrome
-Pfeiffer syndrome
-Rubinstein-Taybi syndrome
-Russell-Silver syndrome (Russell-Silver dwarf)

Mutliple Frenae
-Orofacial digital Syn
-Thurston Syn

-Crouzon syndrome
-Apert syndrome
-Pfeiffer syndrome
-Saethre-Chotzen syndrome

Bifid Uvula,Tongue
-Associated with submucosa cleft
- Loey's Dietz Syndrome (LDS) and can involve some congenital heart problems, particularly aortic aneuyrsm

Flat Filtrum
-Fetal alcohol Syndrome
-Hajdu-Cheney Syndrome
-cri du chat

Hair Color/Texture

Cafe Au Lait Spots

- neurofibromatosis
-McCune-Albright syndrome.
-Von Hippel – Lindau disease
-Fanconi anemia
-Tuberous sclerosis
-Silver-Russell dwarfism
-Ataxia telangiectasia
-Bloom syndrome
-Basal cell nevus syndrome
-Gaucher disease
-Ch├ędiak-Higashi syndrome
-Hunter syndrome
-Marfan's syndrome
-Maffucci syndrome
-McCune-Albright syndrome
-Peutz-Jeghers syndrome
-Multiple endocrine neoplasia type 2

-vascular formations
-Kasabach-Merritt syndrome

Digits and Extremities

-Chronic lung conditions
-Cystic fibrosis
-Lung abscess
-Lung cancer
-Pulmonary fibrosis
-Congenital heart disease (cyanotic type)
-Tetralogy of Fallot
-Total anomalous venous return
-Transposition of the great vessels
-Tricuspid atresia
-Truncus arteriosus
-Digestive system diseases
-Celiac disease
-Crohn's disease and ulcerative colitis
-Graves disease or hyperthyroidism
-Other types of cancer, including liver, gastrointestinal, Hodgkin's lymphoma
-Subacute endocarditis
-Tuberculosis of the intestines

Pitting Edema
-Acute glomerulonephritis
-Burns, including sunburn
-Chronic kidney disease
-Heart failure
-Liver failure from cirrhosis
-Nephrotic syndrome
-Poor nutrition
-Thyroid disease
-Too little albumin in the blood (hypoalbuminemia)
-Too much salt or sodium
Use of certain drugs, including
-Androgenic and anabolic steroids
-Calcium channel blockers
-Certain blood pressure medicines
-Corticosteroids such as prednisone
-Diabetes medicines called thiazolidinediones
-Nonsteroidal anti-inflammatory drugs (NSAIDs)


-Hyperkeratosis is thickening of the stratum corneum, often associated with a qualitative abnormality of the keratin. Can be caused by Vit. A Def.
-Sacrlet fever
-Actinic keratosis

-Dandy-Walker syndrome
-Pfieffer syndrome
-Familial polydactyly
-Carpenter syndrome
-Trisomy chromosome 13
-Short rib polydactyly syndrome
-Ellis-van Creveld syndrome
-Michel-Gruber syndrome

- Acrosyndactyly;
- Delta Phalanx;
- Poland's syndrome:
- hypoplasia of hand and simple syndactyly of fingers on the same
side as the absent pectoral muscles (and other chest wall muscles);
- Apert's Syndrome:
- when all digits are joined, as is common in spoon hand of Apert's
syndrome (acrocephalosyndactyly), it is important to release
border digits-thumb and small finger-first;
- remaining 3 joined fingers can be managed by removing middle digit,
thus creating a three-fingered hand with a thumb and sufficient
skin for closure;
- Chromosomal Syndromes:
- trisomy of 13, 18, or 21;
- deletion of short arm of chromsome 5;
- Craniofacial Syndromes:
- Aglossia adactylia
- Mobius Syndrome
- Oculomandibulofacial syndrome

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