No sign of precocious puberty was noticed. ECG examination showed sinus cardiac arrhythmia and brain MRI examination was normal. [molecularcytogenetics.biomedcentral.com]

Autopsy suggested aspiration as the primary cause of death and confirmed the antemortem findings of an absent corpus callosum and atrial septal defect. [ncbi.nlm.nih.gov]

PE at age 6 months revealed abnormal skin pigmentation covering the bilateral ankle area to the buttock area following the Blaschkos line, a high arched palate, and dysmorphic facies with hypertelorism. [ashg.org]

arch palate (11/40); Frontal bossing (12/24); Abnormal palpebral fissures(15/24); hypertelorism(8/24); Palpebral ptosis(4/24); Nose abnormalities(16/24); Anteverted nostrils(4/24); Ears abnormalities(14/24); Mouth abnormalities (32/40); High arch palate [molecularcytogenetics.biomedcentral.com]

Physical examination revealed facial defects such as palpebral ptosis, small corneas and corectopia, hypoplasia of the upper maxilla and prognathism, dental crowding, high-arched palate, anomalies of the extremities such as digitalization of the thumbs [colombiamedica.univalle.edu.co]

However, the patient had dysmorphic features, including androgenic alopecia, hypertelorism, deep set eyes, a high nasal bridge, down-slanted palpebral fissures, anteverted nares, a wide nose base, a long philtrum, a thin upper lip, a high-arched palate [omicsonline.org]

Physical examination revealed facial defects such as palpebral ptosis, small corneas and corectopia, hypoplasia of the upper maxilla and prognathism, dental crowding, high-arched palate, anomalies of the extremities such as digitalization of the thumbs [colombiamedica.univalle.edu.co]

motor/coordination problems (3/40); Hypotonia (8/40); Psychomotor retardation; Seisure(5/24); Dandy–Walker malformation; Hypotonia; language delay; Learning difficulty; Moderate degree developmental disability; Hypotonia Hypotonia; Motor development [molecularcytogenetics.biomedcentral.com]

He had a history of developmental delay and neonatal hypotonia. He had delayed milestones, feeding difficulty and week sucking and crying during the first several months of life. [molecularcytogenetics.biomedcentral.com]