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(3,) (7) To date, no patients have been clinically diagnosed based on a pattern of facial dysmorphisms. In our patient, other common features were hypotonia (reported in 90% of the patients) and sleep disturbances (reported in 50% of the patients).
No gender dysmorphism was found in present study in terms of presence of impacted canine.
MA may result in a high rate of stillbirth; survivors present soon after birth with severe systemic inflammation, facial dysmorphism, severe failure to thrive, developmental delay, seizures, and hepatic involvement [3].
Previous reports noted the following symptoms at clinical diagnosis: (i) severe intellectual disability, with absent or limited speech; (ii) early-onset hypotonia with slow motor development; (iii) progressive spasticity predominantly of the lower limbs; (iv) predisposition to recurrent respiratory infections; (v) epilepsy, and (vi) other variably present characteristics, including autistic features, gastrointestinal dysfunction, and mild facial dysmorphism [5].
Mutant mice deficient in Kat6b are reported to develop poorly, exhibiting growth retardation, facial dysmorphism, skeletal abnormalities, and developmental brain anomalies, leading to their designation as "Querkopf" ("Strange head") mice [69].
Kleefstra syndrome is a recently identified cause of intellectual disability with associated childhood hypotonia and distinctive facial dysmorphism. More than 75% of the cases reported in the literature have been found to have a subtelomeric deletion at chromosome 9q34.3 while the remaining cases are due to a heterozygous pathogenic variant of the EHMT1 gene [4].
Reported findings regarding other 7p duplications, without involvement of additional chromosomes, describe variable phenotypes, with common features including intellectual disability, hypotonia, craniofacial dysmorphism, skeletal abnormalities, and cardiovascular malformations [1-4].
Keywords: facial dysmorphism, labio-schisis, diagnosis, feature extraction, landmarking, clustering, D-MST, artificial intelligence, decision support
These include facial dysmorphism, central nervous system abnormalities in 50% of cases, cardiac defects in 31% of cases on second-trimester ultrasound, limb abnormalities and genito-urinary and gastrointestinal defects.
Noonan syndrome (NS, OMIM 163950) is an autosomal dominant multisystem disorder characterized by a wide phenotypic spectrum including distinctive facial dysmorphism, postnatal growth retardation, short stature, ectodermal and skeletal defects, congenital heart anomalies, renal anomalies, lymphatic malformations, bleeding difficulties and variable cognitive deficits [8-10].
Dysphagia, cranial dysmorphism, extremity anomalies, hypoplasia of the pectoralis minor muscle (Poland anomaly) and mental deficiency may also be observed in association (1).