ocular hypertelorism meaning in Hindiocular hypertelorism sentence in Hindi
- Of all the impairments, female carriers of X-linked Type I Opitz G / BBB Syndrome usually only have ocular hypertelorism.
- This disorder is also characterized by widely spaced eyes ( ocular hypertelorism ), an abnormally large head size ( macrocephaly ), and a high, prominent forehead.
- Similar mutations in c-Raf can also cause a related condition, termed LEOPARD syndrome ( Lentigo, Electrocardiographic abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormal genitalia, Retarded growth, Deafness ), with a complex association of defects.
- The most common characteristics include a distinct craniofacial phenotype ( microcephaly, micrognathia, short philtrum, prominent glabella, ocular hypertelorism, dysplastic ears and periauricular tags ), growth restriction, intellectual disability, muscle hypotonia, seizures, and congenital heart defects.
- Features distinguishing Weaver syndrome from Sotos syndrome include broad forehead and face, ocular hypertelorism, prominent wide philtrum, micrognathia, deep-set nails, retrognathia with a prominent chin crease, increased prenatal growth, and a carpal bone age that is greatly advanced compared to metacarpal and phalangeal bone age.
- A clinical diagnosis is considered made when, with lentigines present there are 2 other symptoms observed, such as ECG abnormalities and ocular hypertelorism, or without lentigines, 3 of the above conditions are present, with a first-degree relative ( i . e . parent, child, sibling ) with a clinical diagnosis.
- Wolf-Hirschhorn syndrome ( WHS ), caused by a chromosomal abnormality, is characterized by typical craniofacial features in infancy consisting of " Greek warrior helmet appearance " of the nose ( the broad bridge of the nose continuing to the forehead ), microcephaly, high forehead with prominent glabella, ocular hypertelorism, epicanthus, highly arched eyebrows, short philtrum, downturned mouth, micrognathia, and poorly formed ears with pits / tags.
- Some physical malformations associated with Edwards syndrome include small head ( microcephaly ) accompanied by a prominent back portion of the head ( occiput ), low-set, malformed ears, abnormally small jaw ( micrognathia ), cleft lip / cleft palate, upturned nose, narrow eyelid folds ( palpebral fissures ), widely spaced eyes ( ocular hypertelorism ), drooping of the upper eyelids ( webbing of the second and third toes, clubfoot or rocker bottom feet, and in males, undescended testicles.
- The cranial dysmorphisms associated with 3C syndrome are heterogeneous and include a degree of macrocephaly, a large anterior fontanel, a particularly prominent occiput and forehead, ocular hypertelorism ( wide-set eyes ), slanted palpebral fissures, cleft palate, a depressed nasal bridge, cleft palate with associated bifid uvula, Low-set ears are the most common cranial dysmorphism seen in 3C syndrome, and ocular coloboma is the least common of the non-concurrent symptoms ( cleft lip co-occurring with cleft palate is the least common ).