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On examination, he was pale, febrile with no dysmorphism.
Our attention is focused most of all on the latter landmark, as it would affect the chosen area of investigation for the cleft lip dysmorphism clustering.
The parents elected to terminate the pregnancy at 26 weeks' gestation, and a 707 g male fetus was delivered with facial dysmorphisms including small mandible, thin lips, and right microphthalmia.
This case report describes a term, severely growth-retarded infant with minimal facial dysmorphism, cutaneous 3-4 syndactyly, cardiac defects and a neural tube defect.
He had facial dysmorphism suggestive of Noonan syndrome including frontal bossing, downslanting palpebral fissures, thick lips, anteverted nose, low-set and posteriorly rotated ears and short webbed neck withlow posterior hairline, dental caries, thoracic deformation with pectus excavatum, hypospadias, cryptorchidism, fingers' hyperlaxity, valgus flat feet, loose excess skin on hands and heart murmur (Figure 1).
Orofacial dysmorphism, cognitive retardation, extremity defects, Klippel-Feil anomaly, Poland syndrome, and epilepsy may also be observed in Moebius syndrome (7).
Her medical history included placement of a maxillary transpalatal distractor (TPD) for a class III dentoskeletal maxillomandibular dysmorphism with mandibular hyperdivergence 7 months earlier.
Physical examination showed an infant with growth restriction and facial dysmorphism with midface hypoplasia, broad nasal root, and flat philtrum.
2) Other features not always present include hepatic fibrosis, diabetes mellitus, neurological, speech and language deficits, behavioural traits, facial dysmorphism, dental anomalies and developmental delay.
In addition, the haploinsufficiency of DYRK1A in the development of the human brain has been reported to cause unique clinical symptoms such as mental retardation, primary microcephaly, intrauterine growth retardation, facial dysmorphism, motor dysfunction, and behavioral disorders, which are the characteristics of Down syndrome (Altafaj et al.
The first one was exposed to CBZ/TPM/PHT and remained with short stature during follow up, but also with facial dysmorphism due to the fetal anticonvulsant effect (Fig.
Patients with ZS show severe neurological abnormalities, characteristic dysmorphism and hepatomegaly, and rarely survive with an average life of only 6 months.