Facial dysmorphism

Facial dysmorphism, pterygium colli, distended abdomen, absence of external genitalia and of anal and urethral openings, polycystic kidneys, dysmorphism of lumbar spine Unilateral ureteral duplication with one ureter ending in the vagina, hydronephrosis, hydroureters... 

A 6-year-old girl is referred to a physician for evaluation. She is known to have mild mental retardation and a ventricular septal defect (VSD). On physical examination, the patient is noted to have some facial dysmorphism, including a long face, a prominent nose, and flattening in the malar region. In addition, the patient s speech has an unusual quality. Which description best explains the patient s condition ... 

Children bom to mothers with phenylketonuria (PKU) who are not on a phenylalanine-restricted diet during pregnancy are at high risk of intellectual disability, microcephaly, congenital heart defects, low birth weight, and facial dysmorphism. 

Teratogenicity The teratogenic potential of mycophenolate mofetil has been documented after its use during the first trimester. The son of a woman with a renal transplant who took mycophenolate mofetil 250 mg bd, tacrolimus, glucocorticoids, and labeta-lol from conception and throughout pregnancy had microtia and bilateral congenital atresia of the auditory canals and mild facial dysmorphism [93 ]. These malformations are similar to those that have been seen in other babies exposed to mycophenolate mofetil in utero. 

Fig. 19.2. Clinical approach to the diagnosis of oligosaccharidoses and related lysosomal disorders with early (infantile) onset. Associated with CNS involvement of various types. Facial dysmorphism and/or skeletal (vertebral) involvement suggestive of dysostosis multiplex. Bold conditions associated with abnormal oligosacchariduria italics conditions associated with abnormal mucopolysacchariduria. The percentage of patients showing macular cherry-red spot (when present) is indicated in parentheses. Absence of visceromegaly...

Comier-Daire V, Amiel J, Vuillaumier-Barrot S, et al. Congenital disorders of glycosylation Ila cause growth retardation, mental retardation, and facial dysmorphism. / Med Genet 2000 37 875-877. 

A female infant was bom with micrognathia, low-set ears, facial dysmorphism, and unilateral radius aplasia to a mother who used lamotrigine 100 mg/day and oxcarbazepine 1200 m day during pregnancy for seizures [170 ]. 

A 13-year-old boy with Costello syndrome (neonatal macrosomia with subsequent slow growth, developmental delay, coarse facial dysmorphisms, gingival hyperplasia, skeletal anomalies, and hypertrophic cardiomyopathy) and chronic constipation developed signs and symptoms of acute renal insufficiency, after having received four phosphate-containing enemas (125 ml containing sodium... 

S5mdrome who presented with facial dysmorphism, pectus excavatum, stippled epiphyses dolichocephaly, brachy-dactyly, polydactyly short neck and growth retardation. Shortened fourth metacarpal bones were also noted, which has not yet been reported in the literature [6 ]. 

Chromosomal disorders Depending on the cytogenetic changes additional malformations, facial dysmorphism, mental retardation Most often de novo, in rare cases consequence of a familial translocation... 

L-arabitol Dehydrogenase Deficiency. A link to the deficiency of this enzyme was recognized in 2002 in a 16 month old girl. Clinical presentations included delayed motor development, facial dysmorphism, palatoschizis and multiple skeletal abnormalities [34-35]. 

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