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Diseases » Aase Smith syndrome » Diagnosis

Diagnosis of Aase Smith syndrome

Aase Smith syndrome Diagnosis: Book Excerpts

Diagnostic Tests for Aase Smith syndrome: Online Medical Books

16 MEDICAL BOOKS ONLINE! Review excerpts from medical books online, free, without registration, for more information about diagnostis of Aase Smith syndrome.

Cleft Lip/Palate: Differential Diagnosis
(In A Page: Pediatric Signs and Symptoms)

Cleft lip with or without cleft palate
–Incidence 1/500–1/2,500
–Highest incidence among Native Americans
–Defects are unilateral in 80%
–More common in boys
–Pathogenesis is multifactorial
Isolated cleft palate
–Incidence 1/2,000
–More common in girls

Pierre-Robin sequence
–Micrognathia, glossoptosis (posterior displacement of the tongue to pharynx), and cleft palate
–Incidence 1/2,000–1/30,000
–Mortality 2.2–26%

Syndrome-associated cleft lip with or without cleft palate
–Accounts for 30% of cases
–Over 300 syndromes include this phenotype
–Stickler syndrome (25%): Pierre-Robin sequence with severe progressive myopia and arthritis in young adulthood
–Velocardiofacial syndrome (15%): Slender hands and fingers, cardiac defects (TOF, VSD, right aortic arch), prominent nose; deletion of 22q11.21
–DiGeorge syndrome: Thymic hypoplasia, hypoparathyroidism, cardiac defects (truncus arteriosus, interrupted aortic arch) same spectrum at velocardial facial with same deletion of 22q
–Trisomy 13: Microcephaly, cutis aplasia, polydactyly cardiac defects
–Trisomy 18: Low-set ears, clenched hands, rocker bottom feet, cardiac defects
–van der Woude syndrome: Cleft palate associated with lip pits

Cause associated with maternal exposure to corticosteroids, phenytoin, valproic acid, thalidomide, alcohol, cigarettes, dioxin, or retinoic acid; and maternal diabetes mellitus, hormone imbalance, and vitamin deficiency
Fetal alcohol syndrome
Treacher Collins syndrome

Workup and Diagnosis

History
–Prenatal and birth history
–History of prenatal drug/medication use
–Family history of cleft lip or palate, or other birth defects
–Ethnic background

Physical exam
–Location and extent of the defect
–Presence or absence of submucosal cleft palate (must be palpated, because it may not be visible beneath the oral mucosa)
–Dental examination
–Cardiac examination
- Screenings
  –Neonatal and periodic hearing screening
  –Calcium level and immunoglobulins for DiGeorge
- Dental and speech evaluations

» READ BOOK EXCERPT ONLINE »

Source: In A Page: Pediatric Signs and Symptoms, 2007

Cleft lip and cleft palate: Diagnosis
(Professional Guide to Diseases (Eighth Edition))

A typical clinical picture confirms the diagnosis. Cleft lip with or without cleft palate is obvious at birth; occasionally, more severe defects may be seen with diagnostic prenatal ultrasonography. Cleft palate without cleft lip may not be detected until a mouth examination is done or until feeding difficulties develop.

» READ BOOK EXCERPT ONLINE »

Source: Professional Guide to Diseases (Eighth Edition), 2005

Cleft lip and cleft palate: Diagnosis
(Handbook of Diseases)

A typical clinical picture confirms the diagnosis. Cleft lip with or without cleft palate is obvious at birth; occasionally, more severe defects may be seen with diagnostic prenatal ultrasonography. Isolated cleft palate may not be detected until a mouth examination is done or until feeding difficulties develop. (See Variations of cleft lip and cleft palate, page 202.)

» READ BOOK EXCERPT ONLINE »

Source: Handbook of Diseases, 2003