hypertelorism वाक्य
उदाहरण वाक्य
मोबाइल
- 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.
- In 1989, Hogdall used ultrasonographs to diagnose X-linked Type I Opitz G / BBB Syndrome after 19 weeks of pregnancy, by identifying hypertelorism ( widely-spaced eyes ) and hypospadias ( irregular urinary tract openings in the penis ).
- 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.
- Hemizygous males tend to be moderately intellectually disabled and have physical characteristics including coarse facial features, microcephaly ( small head size ), hypertelorism ( widely spaced eyes ), a depressed nasal bridge, a tented upper lip, and an everted lower lip.
- Associated abnormalities vary and may include facial dysmorphism, upslanting palpebral fissures, hypertelorism, cleft palate, genital anomalies, mild developmental delay, ureterocele, smooth muscle hamartoma, nevus lipomatosus, Laron syndrome ( dwarfism with high growth hormone and low somatomedin activity ), and other 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.
- Photosensitivity and hyperkeratosis have been associated with PD . Abnormal facial characteristics, consisting of pronounced eyes which are spaced far apart ( hypertelorism ), a high forehead, a compressed bridge of the nose or saddle nose, and a small lower jaw and chin ( micrognathia ), are also observed in the majority of cases.
- 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.
- Other common findings include hypotonia, microcephaly, growth retardation, a round face with full cheeks, hypertelorism, epicanthal folds, down-slanting palpebral fissures, strabismus, flat nasal bridge, down-turned mouth, micrognathia, low-set ears, short fingers, single palmar creases, and cardiac defects ( e . g ., ventricular septal defect [ VSD ], atrial septal defect [ ASD ], patent ductus arteriosus [ PDA ], tetralogy of Fallot ).
- 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.
- 13q deletion syndrome gives a characteristic appearance to affected individuals, potentially including microphthalmia ( small eyes ), hypertelorism ( wide-set eyes ), thin forehead, high palate, underdeveloped midface, small mouth, small nose, broad, flat nasal bridge, short neck, low hairline, irregular or wrongly positioned teeth, low-set ears, micrognathia ( small jaw ), tooth enamel defects, short stature, microcephaly ( small head ), a prominent, long philtrum, and earlobes turned inwards.
- 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 ).
- A mutation in TAF1 was identified that contributes to a phenotype with severe intellectual disability ( ID ), a characteristic intergluteal crease, and distinctive facial features, including a broad, upturned nose, sagging cheeks, downward sloping palpebral fissures, prominent periorbital ridges, deep-set eyes, relative hypertelorism, thin upper lip, a high-arched palate, prominent ears with thickened helices, and a pointed chin This is a non-synonymous change in TAF1 that results in an isoleucine ( hydrophobic ) to threonine ( polar ) change on the 1337th amino acid residue in the protein ( NP _ 001273003.1 ).
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