Prenatal diagnosis and molecular cytogenetic characterization of de novo partial trisomy 12q (12q24.21 qter) and partial monosomy 6q (6q27 qter) associated with coarctation of the aorta, ventriculomegaly and thickened nuchal fold. [pediatricneurosciences.com]

In some cases, swallowing and feeding difficulties may cause food to be inhaled (aspirated) into the lungs, which may result in severe lung infections (aspiration pneumonia). [rarediseases.org]

Such feeding and swallowing difficulties may result in or contribute to an affected infant’s failure to grow or gain weight at the expected rate (failure to thrive). [rarediseases.org]

Finally, patient 3 had IUGR, failure to thrive, mental and psychomotor retard, café-au-lait patches. We reviewed 96 patients with chromosome 15q duplication and we summarized the main clinical features in Table 1. [ec.bioscientifica.com]

In some cases, abnormalities involving the joints, tendons, muscles, and bones (e.g., flexion contractures, malformations of the fingers and/or toes, scoliosis) may be treated with orthopedic techniques potentially in combination with surgery. [rarediseases.org]

In some cases, the fibrous joints between certain bones in the skull (sagittal sutures) close prematurely (craniosynostosis), causing the head to appear abnormally long and narrow (dolichocephaly). [rarediseases.org]

Distinctive craniofacial features may include microcephaly, antimongoloid slant, epicanthal folds, micrognathia, flattened nasal bridge, long philtrum, puffy cheeks and high arched palate. [4], [5], [6], [7] Other abnormalities may include hypotonia, [pediatricneurosciences.com]

In addition, most affected infants and children have severe to profound mental retardation. However, in rare cases (i.e., trisomy 15q25-qter), only mild mental retardation may be present. [rarediseases.org]

There was no history of seizures, encephalopathy, or jaundice in the neonatal period. He developed social smile at 3 months, and was recognizing his mother and reaching out for objects at the time of presentation. [pediatricneurosciences.com]