Clinical examination at 5 years of age noted some dysmorphic features such as prominent forehead, big ears,
hypotelorism, downslanted palpebral fissures, epicanthus, strabismus, depressed nasal root, anteverted nares, long philtrum, and malar flattening.
(2) Cebocephaly represents the combination of
hypotelorism and a blind-ended single nostril.
The physical exam found fused sutures, posterior and anterior fontanelle < 1 cm, rounded face, sinophris, ocular
hypotelorism, cebocephaly, single nostril, micrognathia, flat osseous palate, and pectus excavatum (Figure 3).
He had
hypotelorism, slightly up-slanted palpebral fissures, long lashes, an exaggerated bow on the upper lip, and a short upturned nose.
However, a number of studies demonstrate that CP is a human teratogen due to its effects such as intrauterine growth retardation and multiple anomalies including microbrachycephaly, coronal craniosynostosis,
hypotelorism, shallow orbits, proptosis, blepharophimosis, abnormal and small ears, unilateral preauricular pit, broad, flat nasal bridge, microstomia, high-arched palate, micrognathia, cranial anomalies, preaxial upper limb and post-axial lower limb defects consisting of hypoplastic thumbs, and oligodactyly like bilateral absence of 4th and 5th toes (Enns et al., 1999).
(5,11) Ocular
Hypotelorism (close-set eyes), cyclopia (single median eye) and micrognathia are all facial abnormalities associated with trisomy 13.
A total of 37 patients had metopic synostosis, demonstrating the characteristic trigonocephalic shape and various aspects of bitemporal narrowing and
hypotelorism. Of these, 22 were male and 15 were female.
Physical examination was signifcant for hypotonia, non-specifc dysmorphic facial fndings including slight frontal bossing,
hypotelorism, low nasal bridge and anteverted nares.
Her face was round, no
hypotelorism, caries teeth, and small chin.