OMIM : 57 Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae (166200);[…] [malacards.org]

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]

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]

Physical examination and laboratory findings His physical exam was notable for a broad forehead, retrognathia (small, posterior positioned mandible), and syndactyly (fusion [neurologytimes.com]

Symptoms Widely spaced eyes ( hypertelorism ) Short stature Scoliosis Webbed toes or fingers Unusual short fingers Low set ears Broad forehead Small jaw Protruding jaw Broad [wikidoc.org]

Abnormalities of the head and face include an unusually small lower jaw (micrognathia), low-set ears, widely spaced eyes (hypertelorism), a broad forehead and nasal root, [en.wikipedia.org]

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]

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]

Physical examination at the present time revealed short stature, high-pitched voice and characteristic craniofacial features including triangular face, broad forehead, broad [academic.oup.com]

forehead & low nasal bridge. [hopkinsmedicine.org]

forehead, low nasal bridge and telecanthus Characteristic ocular findings Yellowish dots in retinal mid peripheral region Mulibrey nanism in a sibling Minor signs Peculiar [academic.oup.com]

forehead Supraorbital ridges Wide-set eyes Broad nose tip Anteverted nostrils Small jaw Thick lips Prominent eyebrows Short stature Large head Obesity Large testes Gap in [checkorphan.org]

Showing of 34 80%-99% of people have these symptoms Broad forehead Increased width of the forehead Wide forehead [ more ] 0000337 Broad nasal tip Broad tip of nose Broad, [rarediseases.info.nih.gov]

Cognitive impairment Everted lower lip vermilion Macrocephaly Macroorchidism Prominent supraorbital ridges Thick lower lip vermilion Mental retardation Coarse face Prominent/Broad [checkorphan.org]

Clinical description Marked hypertelorism and broad forehead are noted in all patients as well as large ears. [orpha.net]

forehead are noted in all patients as well as large ears. [malacards.org]

forehead Increased width of the forehead Wide forehead [ more ] 0000337 Choanal atresia Blockage of the rear opening of the nasal cavity Obstruction of the rear opening of [rarediseases.info.nih.gov]

With 5 months, there was a global development disorder, brachycephaly, broad forehead with prominent metopic suture, infraorbital folds, pointed chin, low-set ears, short [thieme-connect.com]

forehead CT Brain: Normal Down‐slanting palpebral fissures Depressed nasal bridge NS‐like phenotype Kyphosis Webbed neck Hypertelorism Short stature Cardiac anomaly at birth [onlinelibrary.wiley.com]

Dysmorphic features: broad forehead, sparse eyebrows, mildly low-set ears, nasal features with small alae, broad tip, and broad bridge, brachydactyly of fingers and toes, [gene.sfari.org]