Meanings of dysmorphism in anglès

A girl presented with congenital arthrogryposis, intellectual disability and mild bone-related dysmorphism.

In the older patients, muscular atrophy in distal muscles and facial dysmorphism was evident.

After considering quality-of-life issues for the patient, surgical treatment was offered for facial dysmorphism.

Clinical features were significant for cleft palate and facial dysmorphism in all three patients, including Pierre-Robin sequence in two.

Hydrops fetalis is a rare symptom of LSDs and should be considered in the differential diagnosis in combination with dysmorphism.

A significant fraction of cases, however, lack characteristic dysmorphism or clinical pathognomonic traits and are dependent upon molecular tests for definitive diagnoses.

The patient presented at 2 months of age with extensive vascular abnormalities, mild facial dysmorphism and delays in her fine motor skills.

Relatively few CdLS patients with mutations in SMC1A are known; female carriers have minor facial dysmorphism and cognitive deficiency without major structural abnormalities.

In this study we describe two patients with overlapping 6q14 deletions presenting with developmental delay and characteristic dysmorphism.

A 45,X complement was found in lymphocyte and fibroblast cultures of a male infant with severe growth and mental retardation and mild dysmorphism.

Methods: We studied 29 patients with a known subtelomeric defect and assessed clinical variables concerning birth history, facial dysmorphism, congenital malformations, and family history.

Here, we report on a 7-year-old boy with DEE, cerebellar dysgenesis, facial dysmorphism and postnatal growth delay, apparently not fitting with any recognized disorder.

Deletions on chromosome 15q14 are a known chromosomal cause of cleft palate, typically co-occurring with intellectual disability, facial dysmorphism, and congenital heart defects.

The dysmorphisms in these patients are minor and no shared congenital abnormalities seen.

Dysmorphisms of the eye, ear, or nose were detected more frequently in autopsy cases.

High-resolution chromosome analysis may be recommended if a specific diagnosis is suspected because of obvious dysmorphisms.