The mainly differences in our case are: dysmorphic feature
and eleven pairs of ribs.
She presented with proptosis, delayed speech, developmental delay, dysmorphic features
Upon delivery, he was noticed to have dysmorphic features
including head circumference of 32 cm with craniosynostosis.
Xia and colleagues (2014) performed a clinical WES test and described a de novo dominant truncating mutation in the AHDC1 gene in four patients with ID, speech delay, facial dysmorphic features
, hypotonia, and sleep apnoea.
Physical examination should include charting all growth parameters (including head circumference), noting any dysmorphic features
, a full systemic examination, a detailed neurological examination and developmental/cognitive assessment.
IMD may present at or soon after birth with dysmorphic features
, seizures and severe hypotonia.
Physical and diagnostic examinations revealed various facial dysmorphic features
including downward-slanting palpebral fissures, malar hypoplasia, hypoplasia of mandible, micrognathia, fishlike mouth with a high arched palate, absent lower eyelid eyelashes, and preauricular hair displacement (Fig.
In addition to the typical clinical phenotypes such as developmental delay, nonspecific dysmorphic features
, and global brain atrophy on neuroimaging, the patient presented with epileptic spasm as the initial symptom.
Shprintzen-Goldberg syndrome (SGS), is a syndrome characterized by typical dysmorphic features
, craniosynostosis and marfanoid features, skeletal and neurological abnormalities.
The associated findings in BCNS, in addition to medulloblastoma, include macrocephaly and dysmorphic features
such as cleft lip or palate, frontal bossing, and hypertelorism.
"He had dysmorphic features
, like wide-set eyes, low set ears and a broad nasal bridge," she said.
Case: A three-year-old female with a history of obstructive and central sleep apnea, deletion at chromosome 16p11.2, developmental delay and dysmorphic features
presented to clinic for persistent middle ear effusions and multiple bouts of otitis media.