Autism and facial dysmorphism

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The figures here are based on the bias, that mainly clinically aberrant cases are reported in literature! Case 4a: birth weights around g, developmental delay, mild mental retardation, flat nasal bridge, prognathia, simply formed ears, down slating palpebral fissures. Case 4b: The first child girl : born 44 weeks of gestation after a normal pregnancy and delivery by forceps extraction. At 4 y developmental delay and an unusual face; motor milestones in the normal range; speech development considerably retarded; occipito-frontal circumference OFC Case 4c: The second child boy : delivery at term by cesarean section after a normal pregnancy.
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Facial features provide clue to autism severity

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Facial features provide clue to autism severity | Spectrum | Autism Research News

Physical flags: Children with autism are more likely to have unusual facial features, such as prominent foreheads, than are controls. The presence of any of three abnormal physical features — an asymmetrical face, tufts of hair growing in the wrong direction or a prominent forehead — can help diagnose autism, according to a study published 6 June in the Journal of Autism and Developmental Disorders 1. Individuals with autism often have a number of unusual physical characteristics, called dysmorphologies , such as wide-set eyes or broad foreheads. Dysmorphic features may mark a subgroup of individuals who have autism with a distinct underlying genetic cause. A more precise picture of the pattern of dysmorphic features in autism could provide the basis for a screening tool for the disorder.
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Autism and Genetic Syndromes

RSTS is characterized by growth delays, distinctive facial features, intellectual disability with an average IQ of , abnormally broad and often angulated thumbs and great toes halluces , and feeding difficulties dysphagia. The characteristic facial features of RSTS include downward slanted eyes downslanted palpebral fissures , long eyelashes, high-arched eyebrows, low-hanging nasal septum columella , high palate, and an extra cusp on the lingual side of a front tooth talon cusps. In most affected children, RSTS occurs as the result of a new de novo gene mutation, although rarely, the syndrome has been inherited from an affected parent in an autosomal dominant pattern. Management generally involves monitoring of growth and feeding, yearly eye and hearing evaluations, and evaluation for cardiac, dental, and renal abnormalities. Behavioral therapy and special education are also indicated.
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