Clinical manifestations in infants with Pallister-Hall syndrome included postaxial polydactyly with nail dysplasia, short nose with flat nasal bridge, apparently low-set,
[ncbi.nlm.nih.gov]
nasal bridge anteverted nares multiple buccal frenula microglossia cleft lip and palate teeth natal teeth cardiovascular anomalies ventricular septal defect patent ductus
[humpath.com]
Symptoms - Pallister-Hall syndrome * Abnormalities of the head, neck, and facial areas including short neck, short midface, flat nasal bridge, small tongue, noticeable underdevelopment
[checkorphan.org]
AHO is characterized by short stature, obesity, round face with flat nasal bridge, brachydactyly, subcutaneous ossification and possible / variable developmental delay.
[hopkinsmedicine.org]
bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Ectopic ossification
[rarediseases.info.nih.gov]
bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Elevated
[rarediseases.info.nih.gov]
Examples include low and flat nasal bridge, frontal bossing, gingival hypertrophy, macroglossia, and hirsutism [9] [10].
[symptoma.com]
Examples include low and flat nasal bridge, frontal bossing, gingival hypertrophy, macroglossia, and hirsutism.
[symptoma.com]
[bhj.org.in] Examples include low and flat nasal bridge, frontal bossing, gingival hypertrophy, macroglossia, and hirsutism.
[symptoma.com]
nasal bridge midface hypoplasia deep-set eyes prominent forehead and chin epicanthic folds low set ears neurological abnormalities developmental delay and intellectual disability
[radiopaedia.org]
bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Depressed
[rarediseases.info.nih.gov]
nasal bridge 2 4 9 15 17 and midface hypoplasia 6 8 13 were also frequent.
[jmg.bmj.com]
Manifestations included neonatal respiratory distress, large head, midface hypoplasia, flat nasal bridge, short nose, micrognathia, cleft palate, short neck, micromelia, and
[ncbi.nlm.nih.gov]
The facies are round and the midface is underdeveloped with a flat nasal bridge. Mild psychomotor retardation is sometimes seen.
[disorders.eyes.arizona.edu]
bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Enlarged
[rarediseases.info.nih.gov]
[…] feet wide flat nasal bridge thin upper lip also had hard time nursing as a baby due to a high arched palate this is a short list of his many issues i know this is a long
[circleofmoms.com]
nasal bridge Anteverted nares Hypertelorism (widely spaced eyes) Epicanthal folds (skin fold over inner corner of eyes) Whole Body Features Associated with 9p Deletions:
[9pminus.org]
] 0002750 Depressed nasal bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [
[rarediseases.info.nih.gov]
[…] tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ] 0000463 Delayed skeletal maturation Delayed bone maturation Delayed skeletal development [ more
[rarediseases.info.nih.gov]
[…] of the metacarpal bones Abnormality of the long bone of hand 0001163 Abnormality of the metaphysis Abnormality of the wide portion of a long bone 0000944 Anteverted nares Nasal
[rarediseases.info.nih.gov]
bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Glaucoma
[rarediseases.info.nih.gov]
bridge, and small upturned nasal tip.
[encyclopedia.com]
Individuals with Marshall syndrome manifest ocular hypertelorism, hypoplasia of the maxilla and nasal bones, flat nasal bridge and small upturned nasal tip ...
[ibis-birthdefects.org]
bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Distal widening
[rarediseases.info.nih.gov]
[…] cavity 0000452 Death in childhood 0003819 Decreased body weight Decreased weight Low body weight Low weight Weight less than 3rd percentile [ more ] 0004325 Depressed nasal
[rarediseases.info.nih.gov]
[…] middle phalanges of the hand Bullet-shaped middle finger bones 0009845 Cerebral atrophy Degeneration of cerebrum 0002059 Choanal stenosis Narrowing of the rear opening of the nasal
[rarediseases.info.nih.gov]
bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Developmental
[rarediseases.info.nih.gov]
Additional dysmorphic alterations include coronal vertebral clefting, flat nasal bridge, frontal bossing, dwarfing, and joint contractures.
[themedicalbiochemistrypage.org]
Flat nasal bridge. Congenital ichthyosiform erythroderma. Alopecia of the scalp. Cataracts. Chondrodysplasia punctata, tibial-metaphyseal type mesomelic type.
[fetalultrasound.com]
bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Frontal bossing
[rarediseases.info.nih.gov]
Some affected individuals have distinctive facial features, such as a prominent forehead, low-set ears, and a short nose with a flat nasal bridge.
[ghr.nlm.nih.gov]
A cranial bone graft may be necessary for correction of the flat nasal bridge line. See the images below. Hypertelorism. The segments have been rotated into position.
[emedicine.medscape.com]
bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Enlarged
[rarediseases.info.nih.gov]
[…] vertebral bodies 0004634 Curly eyelashes 0007665 Curly hair 0002212 Delayed skeletal maturation Delayed bone maturation Delayed skeletal development [ more ] 0002750 Depressed nasal
[rarediseases.info.nih.gov]
Infants with Crisponi syndrome have unusual facial features, including a flat nasal bridge, upturned nostrils, philtrum, vaulted palate, micrognathia and low-set ears.
[ivami.com]
Infants with Crisponi syndrome have unusual facial features, including a flat nasal bridge, upturned nostrils, a long space between the nose and upper lip (philtrum), a high
[ghr.nlm.nih.gov]
[…] or depressed nasal bridge Highly arched palate Long philtrum (groove below nose) Two types of Crisponi syndrome/CISS have been described.
[forgottendiseases.org]
Craniofacial anomalies include an asymmetrical head shape, due to unilateral hypoplasia, and a flat nasal bridge.
[humpath.com]
Additional dysmorphic alterations include coronal vertebral clefting, flat nasal bridge, frontal bossing, dwarfing, and joint contractures.
[themedicalbiochemistrypage.org]
Clinical features of CDPX2: Growth deficiency / short stature Craniofacial appearance Frontal bossing Flat nasal bridge Sparse eyebrows and lashes, often asymmetric Skeletal
[ncbi.nlm.nih.gov]
The patient had multiple craniofacial abnormalities at birth, including ocular hypertelorism, a flat nasal bridge, micrognathia and a cleft palate.
[ncbi.nlm.nih.gov]
bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Dumbbell-shaped
[rarediseases.info.nih.gov]
bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Flat acetabular
[rarediseases.info.nih.gov]
bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Diastasis
[rarediseases.info.nih.gov]
Note the flat nasal bridge, broad tip, large ears, broad philtrum, and small pointed chin. (Photographs reproduced with permission.)
[jmg.bmj.com]
[…] development deficit Late-onset speech development Poor language development Speech and language delay Speech and language difficulties Speech delay [ more ] 0000750 Depressed nasal
[rarediseases.info.nih.gov]
bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Full cheeks
[rarediseases.info.nih.gov]
[…] eruption of teeth Delayed eruption Delayed teeth eruption Delayed tooth eruption Eruption, delayed Late eruption of teeth Late tooth eruption [ more ] 0000684 Depressed nasal
[rarediseases.info.nih.gov]
bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Developmental
[rarediseases.info.nih.gov]
The most important craniofacial features were brachycephaly, convex/biprotusive profile, flat nasal bridge, closed nasolabial angle, apparent large mouth, and broad lips
[hindawi.com]
Distinct facial features (including flat face, depressed nasal bridge, and bulging forehead) become more evident in the second year.
[en.wikipedia.org]
Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Frontal bossing
[rarediseases.info.nih.gov]
Symptoms of achondroplasia A normal-length trunk with short arms and legs A large head with a prominent forehead and flat nasal bridge Short and wide hands and feet Short
[thesun.co.uk]
nasal bridge Prominent lower jaw Picture from Wolf Wikis North Carolina State University Complications of Achondroplasia The following complications are associated with achondroplasia
[healthhype.com]
[…] tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ] 0000463 Depressed nasal bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat
[rarediseases.info.nih.gov]
nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Ectropion Eyelid turned out 0000656 Fetal akinesia sequence 0001989 Hepatomegaly Enlarged
[rarediseases.info.nih.gov]
Pancytopenia Low blood cell count 0001876 Stillbirth Stillborn 0003826 Thrombocytopenia Low platelet count 0001873 30%-79% of people have these symptoms Anteverted nares Nasal
[rarediseases.info.nih.gov]
bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Downslanted palpebral fissures
[rarediseases.info.nih.gov]
The case presented here exhibited facial dysmorphism such as a flat forehead, epicanthal folds, hypertelorism, depressed and low nasal bridge with bulbous nasal tip, flaring
[bmcmedgenet.biomedcentral.com]
[…] cavity [ more ] 0000453 Choanal stenosis Narrowing of the rear opening of the nasal cavity 0000452 Cleft palate Cleft roof of mouth 0000175 Depressed nasal bridge Depressed
[rarediseases.info.nih.gov]
bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Dimple chin
[rarediseases.info.nih.gov]
Hyperterolism and a broad and flat nasal bridge was noted. On physical examination, a four-finger-width open anterior fontanelle was noted.
[ajnr.org]
[…] eruption of teeth Delayed eruption Delayed teeth eruption Delayed tooth eruption Eruption, delayed Late eruption of teeth Late tooth eruption [ more ] 0000684 Depressed nasal
[rarediseases.info.nih.gov]
bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Finger clinodactyly
[rarediseases.info.nih.gov]
Distinctive facial features often associated with oral-facial-digital syndrome include a split in the lip (a cleft lip ); a wide nose with a broad, flat nasal bridge ; and
[ghr.nlm.nih.gov]
[…] duplication of hallux phalanx Complete duplication of big toe bones 0010100 Conductive hearing impairment Conductive hearing loss Conductive deafness [ more ] 0000405 Depressed nasal
[rarediseases.info.nih.gov]
Examination revealed generalized hypotonia, hepatosplenomegaly, and facial dysmorphism along with flat nasal bridge and long philtrum.
[pediatricneurosciences.com]
Distinct facial features (including flat face, depressed nasal bridge, and bulging forehead) become more evident in the second year.
[day2dayparenting.com]
The facial features undergo a marked deterioration, which mainly include a low nasal bridge, flat face, and protruding forehead.
[patienthelp.org]
bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Hearing impairment
[rarediseases.info.nih.gov]
30%-79% of people have these symptoms Cardiomegaly Enlarged heart Increased heart size [ more ] 0001640 Coarse facial features Coarse facial appearance 0000280 Depressed nasal
[rarediseases.info.nih.gov]
bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Failure to
[rarediseases.info.nih.gov]
nasal bridge (early aspect) Prominent nasal bridge (late aspect) Short nose Anteverted nares Prominent columella Broad nasal bridge Ears Small ears Low set ears Posteriorly
[ncbi.nlm.nih.gov]
[…] thrive Faltering weight Weight faltering [ more ] 0001508 Flat occiput 0005469 Flexion contracture Flexed joint that cannot be straightened 0001371 Generalized hypotonia
[rarediseases.info.nih.gov]
bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Developmental
[rarediseases.info.nih.gov]
0000283 Cataract Clouding of the lens of the eye Cloudy lens [ more ] 0000518 Cerebral atrophy Degeneration of cerebrum 0002059 Decreased prothrombin time 0032198 Depressed nasal
[rarediseases.info.nih.gov]
Characteristic facial features include: down-slanting palpebral fissures, short nose with flat nasal bridge, tall broad forehead, widow's peak in the anterior hairline, and
[orpha.net]
nasal bridge with epicanthic folds Square mandible with a pointed chin Prominent tongue Full cheeks and lips with a wide mouth Characteristic hands Hypermobile with ulnar
[dermnetnz.org]
[…] patient's life can include: Characteristic facial features Macrocephaly with a high forehead Bitemporal narrowing Large-cupped and posteriorly rotated ears with folded earlobes Flat
[dermnetnz.org]
Distinct facial features (including flat face, depressed nasal bridge, and bulging forehead) become more evident in the second year.
[en.wikipedia.org]
Physical symptoms generally include coarse or rough facial features (including a flat nasal bridge, thick lips, and enlarged mouth and tongue), short stature with disproportionately
[en.wikipedia.org]
During the hospitalization, he presented some facial features such as broad forehead, flat nasal bridge, full cheeks, a wide mouth (Figure 1) and a heart murmur.
[ijp.tums.pub]
Furthermore, children with WBS have characteristic craniofacial features such as periorbital fullness, medial eyebrow flare, stellate iris, flat nasal bridge, strabismus,
[ijmpo.org]
In Williams-Beuren syndrome (WBS), facial features include full cheeks, flat nasal bridge, long philtrum, periorbital fullness, wide mouth, full lips and anteverted ears.
[scielo.br]
