Osteogenesis Imperfecta Type 13
Talk to our genetiec expert 55 644 5590 All the samples are tested by 2 different teams to get accurate test results. The samples are processed at Genetic DNA Lab facility. Test Cost : 3000.00 AED Reporting Time: 5 Week Sample Type: EDTA blood or DNA Osteogenesis imperfecta type 13 (BMP1) Test Description :[…][dnalabsuae.com]
Acromegaly
He has coarse facial features, a broad forehead, wide bulbous nose, thick protuberant lips, and a forward jutting jaw (Fig. 1 ).[springerlink.com]
Weaver Syndrome
The clinical manifestations are mild mental retardation, overgrowth with accelerated bone age, minor facial anomalies including broad forehead, mild hypertelorism, depressed[ncbi.nlm.nih.gov]
In addition to the characteristic manifestations of overgrowth and advanced bone age, the facies were typical, with a broad forehead, hypertelorism, a long philtrum, micrognathia[ncbi.nlm.nih.gov]
Clinical spectrum increased birth weight: fetal macrosomia early overgrowth macrocephaly accelerated osseous maturation: increased bone age typical facial features broad forehead[radiopaedia.org]
Progeroid Syndrome Type Petty
Diseases related with Low-set ears and Broad forehead In the following list you will find some of the most common rare diseases related to Low-set ears and Broad forehead[mendelian.co]
[…] growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad[orpha.net]
forehead * Absent teeth * Abnormal dermatoglyphics * Retarded fetal growth * Increased body hair * Everted lower lip * Epicanthic folds * Long lashes * Loose skin * Large[checkorphan.org]
Alagille Syndrome
forehead, pointed mandible, and bulbous nasal tip. rickets and other bony deformities are common, especially in the vertebral column.[medical-dictionary.thefreedictionary.com]
The 12-month-old twin sisters have broad foreheads, deep-set eyes, pointed chins, and triangular faces with jaundice.[ncbi.nlm.nih.gov]
forehead, long, straight nose, deep-set eyes, posterior embryotoxon in the eye, cardiovascular abnormalities, vertebral defects, and nephropathy.[medical-dictionary.thefreedictionary.com]
Char Syndrome
Abstract In this case study, we investigate a child presenting with patent ductus arteriosus, short philtrum, duck-bill lips, strabismus, a flat nasal bridge, a broad forehead[ncbi.nlm.nih.gov]
Additionally, a broad forehead, flared eyebrows, mild hypertelorism, downslanting palpebral fissures, strabismus, a flat nasal bridge and a broad, flattened nasal tip were[symptoma.com]
Aarskog Syndrome
The major facial manifestations of this syndrome include hypertelorism, broad forehead, broad nasal bridge, short nose with anteverted nostrils, long philtrum, widow's peak[ncbi.nlm.nih.gov]
The major manifestations of this syndrome include short stature decreased bone age craniofacial anomalies hypertelorism broad forehead broad nasal bridge short nose with anteverted[radiopaedia.org]
Cenani Syndactylism
Temtamy et al.(2003) described a broad forehead, downward slanting palpebral fissures, hypertelorism, small and prominent philtrum, malar hypoplasia and curved upper lip,[ashg.org]
In addition, he had dextroscoliosis [Figure 6] and pseudotail of the coccyx at the back, and mild facial dysmorphism included broad forehead, depressed nasal bridge, and prominent[njps.org]
Both probands had similar mild facial dysmorphism; a high broad, prominent forehead, hypertelorism, a depressed nasal bridge, downslanting palpebral fissures, a short nose[ncbi.nlm.nih.gov]
Russell-Silver Syndrome
RSS is characterized by severe intrauterine growth retardation, postnatal short stature, asymmetry of the face, body, and limbs, short and incurved fifth fingers, broad forehead[ncbi.nlm.nih.gov]
forehead and hypoplastic mandible, right upper and lower limb rhizomelia, clinodactyly of the little fingers, micro-penis, and (unilateral) cryptochidism.[ncbi.nlm.nih.gov]
Signs include: Pointed chin that is not fully developed Thin, wide mouth Triangle-shaped face with broad forehead There are no specific laboratory tests to diagnose Russell-Silver[coordinatedhealth.com]
Singleton Merten Syndrome
Additional clinical characteristics described here include particular facial characteristics (high anterior hairline, broad forehead, smooth philtrum, thin upper vermillion[ncbi.nlm.nih.gov]
forehead ; Cardiomegaly ; Carious teeth ; Congestive heart failure ; Coxa valga ; Cutaneous photosensitivity ; Decreased body weight ; Expanded metacarpals with widened medullary[mousephenotype.org]
Typical facial features of Singleton Merten syndrome include high anterior hairline, drooping of the upper eyelids ( ptosis ), broad forehead, loss of vertical groove between[xpertdox.com]