Growth
Prenatal and postnatal growth deficiency_
Decreased adipose tissue ?
Performance
Mental retardation _
Developmental delay
Fine-motor dysfunction
Infant irritability, _ child hyperactivity, ? and poor attention span
Speech problems
Poor coordination, hypotonia ?
Cognitive, behavioral, and psychosocial problems
Craniofacial
Microcephaly _
Short palpebral fissures _
Ptosis ?
Retrognathia in infancy _
Maxillary hypoplasia ?
Hypoplastic long or smooth philtrum _
Thin vermillion of upper lip _
Short upturned nose ?
Micrognathia in adolescence ?
Skeletal
Joint alterations including camptodactyly, flexion contractures at elbows, congenital hip dislocations
Foot position defects
Radioulnar synostosis
Tapering terminal phalanges, hypoplastic finger and toe nails ?
Cervical spine abnormalities
Altered palm crease pattern ?
Pectus excavatum ?
Cardiac
Ventricular septal defect !
Atrial septal defect ?
Tetralogy of Fallot, great vessel anomalies !
Other
Cleft lip and/or cleft palate !
Myopia, ! strabismus ?
Epicanthal folds ?
Dental malocclusion
Hearing loss, protuberant ears
Abnormal thoracic cage
Strawberry hemangiomata ?
Hypoplastic labia majora ?
Microophthalmia, blepharophimosis !
Small teeth with faulty enamel !
Hypospadias, small rotated kidneys, hydronephrosis !
Hirsutism in infancy !
Hernias of diaphragm, umbilicus or groin, diastasis recti !
* From Streissguth, Clarren and Smith, and Jones. Principal (_,?) and associated (?,!)
features observed in 245 affected individuals. _>80%; ?>50%; ? 26% to 50%; ! 1% to
25% of patients.
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