The clinical features of patient 1934 include developmental delay, triangular face, prominent forehead, low set ears, dental abnormalities, a high arched palate, long, flexible fingers, and joint laxity. [trisomydisorders.wordpress.com]

She has features consistent with the previously described cases with complete trisomy 17p, including pre- and post-natal growth retardation, motor and mental retardation, skeletal anomalies, clinodactyly of the 5th finger, hypertrichosis, as well as facial [ncbi.nlm.nih.gov]

Since some of these children have obvious physical handicaps such as a small head and stunted growth, an ultrasound examination which suggests problems would make the amniocentesis results more worrisome. [medhelp.org]

Affected babies often have small head size, fused second & third toes &sometimes extra fingers and toes. There can be learning and behavior problems from mild to approaching autism in severity. [healthtap.com]

Digital abnormalities include absent fourth and fifth digits, brachydactyly and fifth finger clinodactyly. Genital hypoplasia in males and hypertrichosis are often observed. Intellectual deficit is severe to profound and the prognosis is poor. [ncbi.nlm.nih.gov]

Comparison with the three previously reported patients suggests a clinically distinct "trisomy 17p syndrome", i.e. pre- and postnatal growth retardation, microcephaly, antimongoloid slanting of palpebral fissures, hypertelorism, long philtrum with thin [ncbi.nlm.nih.gov]

They included intra- and extra-uterine growth retardation, developmental retardation, microcephaly, internal hydrocephalus, a facies with lateral displacement of the inner canthi, antimongoloid slanting of the… CONTINUE READING [semanticscholar.org]

Gower's sign was negative. Enlarged nerves were not found. There was no sensory deficit, but detailed testing could not be performed. Electrophysiological studies were done with a MEDELEC Shappire 4 electromyographer. [jnnp.bmj.com]

Neurological examination showed facial dysmorphic characters (as mentioned above), remarkable hyperactivity, pronounced expressive speech delay, generalised hyporeflexia, pes cavus, and incipient tibioperoneal atrophy. Gower's sign was negative. [jnnp.bmj.com]