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Dysmorphology
FH and FAS
Question | Answer |
---|---|
FAS features | Microcephaly, short stature or small; sleep problems; heart problems; vision problems; learning disabilities; behavioral problems; hearing problems; coordination problems |
Major features of FAS (face) | Short palpebral fissures; flat midface; smooth philtrum; thin upper lip; micrognathia |
Associated features of FAS (face) | Epicanthal folds; flat nasal bridge; short upturned nose |
Dx of FAS depends on | facial features; evidence of brain dysfunction; pre and post natal growth deficiency in the presence of prenatal alcohol exposure |
Therapies for development and behavior should focus on... | Sensory/motor/regulatory; attention; communication-language; communication-social; cognitive; achievement; memory; executive functioning; adaptive/social; neurological abnormalities |
Fetal Anticonvulsant Syndrome (aka FH) features | eyelid ptosis; ocular hypertelorism, inteverted nose, midface hypoplasia; anteverted nose, hearing loss/impairment; nail hypoplasia; growth retardation; hypospadias; renal malformations; inguinal hernia; |
FH has abnormalities of... | 1. Growth 2. Performance 3. Craniofacial 4. Limbs 5. Other (short neck, widely spaced nipples; rib anomalies; low-set hairline; simian crease; inguinal hernias; etc.) |
Natural Hx of FH | Infants present with Failure-to-thrive during early postnatal month; growth of nails and distal pahalange; mental deficiency of greatest concern |