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.
22.
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 ).
23.
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.
24.
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.
25.
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.
26.
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.
27.
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.
28.
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.
29.
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.
30.
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 ).
