Hearing loss was believed to be related to recurrent otitis media. Cranial imaging showed enlarged ventricles and small brain. Three carrier females had normal intellectual function and showed no phenotypic abnormalities. [bmjopen.bmj.com]

fingers, slender fingers) (see Table 2 ). [ojrd.biomedcentral.com]

Additional features were brachydactyly, decreased musculature of the distal legs, foot deformation (right foot everted, left foot with midfoot varus), scoliosis, flexion of the hips, genu vara, soft loose skin over the hands and hyperextensible joints [bmjopen.bmj.com]

[…] two affected brothers and a nephew were generalised intrauterine and postnatal growth retardation, severe intellectual disability, triangular-shaped face, low posterior hairline, bifrontal narrowness, malar flatness, blepharophimosis, optic atrophy, esotropia [bmjopen.bmj.com]

%611222 SYNDROMIC MICROPHTHALMIA 11 Microphthalmia, optic nerve hypoplasia AR VAX1 #614402 SYNDROMIC MICROPHTHALMIA 12 Anophthalmia, microphthalmia AD RARB #615524 SYNDROMIC MICROPHTHALMIA 13 Microphthalmia, microcornea, ptosis, coloboma, nystagmus, esotropia [eyewiki.aao.org]

Dysmorphic features are common and can include macrocephaly, microcephaly, deep-set eyes, hypotelorism, small palpebral fissures, dysplastic, large, or low-set ears, long face, bitemporal narrowing, high-arched palate, thin upper lip, and scoliosis or [ncbi.nlm.nih.gov]

The older brother also has cupped ears, thick eyebrows and coarse face. , presence of mutation; , normal;, proband;, affected;, carrier. [bmjopen.bmj.com]

nose, low-set and cupped ears, short philtrum, thin tented upper lip and pectus excavatum ( figure 1 B). 10 They were poorly coordinated and became self-abusive, hyperactive and spastic with large joint contractures. [bmjopen.bmj.com]

Our clinical re-evaluation of the surviving male in the original JMS family showed findings that were not consistent with ATRX -associated XLID, specifically bifrontal narrowing, hypotelorism, prominent nose and thin lips, prompting us to question their [bmjopen.bmj.com]

Craniofacial features include deep-set eyes, broad nasal bridge and nasal tip, a wide mouth, a thin upper lip and prognathism ( figure 1 C and table 1 ). [bmjopen.bmj.com]

Affected individuals show global developmental delay from infancy, with variably impaired intellectual development and poor or absent speech, often with delayed walking. [ncbi.nlm.nih.gov]

Other features, such as hypotonia, seizures, and delayed bone age, are more variable (summary by Moortgat et al., 2018). [ncbi.nlm.nih.gov]

Skeletal surveys in both boys demonstrated only brachycephaly and delayed bone age (prior to treatment with growth hormone). [bmjopen.bmj.com]