anterior fontanelle, prominent forehead, hypertelorism, epicanthic folds, short nose and mandible and preauricular skin tags, mixed hearing loss, laryngomalacia, and growth
[ncbi.nlm.nih.gov]
Prominent forehead, broad nasal bridge, short nose and mandible, hypertelorism, epicanthic folds, large anterior fontanelle and tapered fingers, omphalocele and inguinal hernia
[ncbi.nlm.nih.gov]
These include a large forehead, large anterior fontanelle, broad nasal bridge with increased intercanthal distance, partial or complete agenesis of the corpus callosum, polysyndactyly
[ncbi.nlm.nih.gov]
anterior fontanelle, unibrow, deep-set eyes, epicanthus, wide nasal root/bridge, mandible hypoplasia, abnormal location of the pinna, philtrum and pointed chin; neurological
[scinapse.io]
anterior fontanelle, prominent forehead, deep set eyes, flat nasal bridge and midface hypoplasia, ear asymmetry, a pointed chin, and orofacial clefting.
[jmg.bmj.com]
[…] and late-closing anterior fontanel [2-4].
[enlivenarchive.org]
At birth she was noted to have a large anterior fontanelle, downslanting palpebral fissures, bilateral corneal clouding, and small ears.
[cags.org.ae]
anterior fontanelles,[7] severe axial dystonia[5] poor speech, mild psychomotor retardation and a bilateral conductive hearing loss,[5] which were all present in varying
[ncbi.nlm.nih.gov]
anterior fontanelles, [7] severe axial dystonia [5] poor speech, mild psychomotor retardation and a bilateral conductive hearing loss, [5] which were all present in varying
[ijo.in]
Symptoms - Robinow syndrome- autosomal recessive * Vertebral anomalies * Short stature * Large head * Large anterior fontanel * Frontal bossing Causes - Robinow syndrome-
[checkorphan.org]
anterior fontanel, hypertelorism, prominent eyes, bilateral epicanthic folds, wide down‐slanting palpebral fissures, flat midface, short upturned nose, broad nasal bridge
[databases.lovd.nl]
[…] hypoplasia Robinow syndrome DRS1 Isolated (sporadic) - - - - - Johan den Dunnen 00311877 0000237127 see paper; ..., short stature, mesomelic limb shortening, brachydactyly, large
[databases.lovd.nl]
Within the first month after birth, the patient manifested feeding difficulties, lethargy, persistent jaundice, umbilical hernia, and large anterior and open posterior fontanels
[ncbi.nlm.nih.gov]
[…] head with swollen limbs and genitalia Large anterior fontanelle Cold and mottled skin especially on the extremities Flattened or broadened nose associated with nasal obstruction
[dermnetnz.org]
Hypotonia and lethargy Feeding difficulties, resulting in poor weight gain and failure to thrive Constipation Hoarse cry with reduced frequency of crying Puffy appearance; large
[dermnetnz.org]
A 15-month-old boy presented with growth and global developmental delay, feeding difficulties, sleep disturbance and several minor anomalies, including a large anterior fontanel
[freemedart.ru]
anterior fontanel, high forehead, diastasis of the cranial sutures, broad nasal bridge, hypertelorism, low-set abnormal ears, and short neck.
[malacards.org]
ABSTRACT A 15-month-old boy presented with growth and global developmental delay, feeding difficulties, sleep disturbance and several minor anomalies, including a large anterior
[freemedart.ru]
Donnai-Barrow syndrome (DBS) is characterized by typical craniofacial features (large anterior fontanelle, wide metopic suture, widow's peak, markedly widely spaced eyes,
[ncbi.nlm.nih.gov]
DBS/FOAR is characterized by specific facial features such as a V-shaped point in the hairline in the middle of the forehead (Widow’s peak), large anterior fontanelle, wide
[cureus.com]
On examination, he had large anterior fontanelle, V-shaped hairline at center of forehead (widow’s peak), wide metopic suture, hypertelorism, iris coloboma, down slanted palpebral
[link.springer.com]
anterior fontanelle
[malacards.org]
Dysmorphic features noted at birth included hypertelorism, a persistent large posterior fontanelle, a large anterior fontanelle, a narrow, high arched palate with midline
[jmg.bmj.com]
[…] arteriosus Prenatal Manifestations Amniotic Fluid: polyhydramnios Skin Nails Hair Skin: eczema Head And Neck Ears: posteriorly rotated ears small ears Head And Neck Head: large
[malacards.org]
Additionally, individuals also have an abnormally large head circumference (macrocephaly) with a prominent forehead due to an abnormally large anterior fontanelle that closes
[en.wikipedia.org]
[…] macrocephaly, frontal bossing, delayed closure of anterior fontanel, wide metopic suture and absent diploic space in the skull.
[eurorad.org]
However, in KCS2, the anterior fontanel is abnormally large, closes late, and a fibrous joint between the bones in the forehead (metopic suture) is spaced wider than usual
[rarediseases.org]
anterior fontanelle (41%), microcephaly (35%), Small mouth, persistent fetal finger pads (31%), duplicated longitudinal bracketed epiphysis (kissing delta phalanx), syndactyly
[faoj.org]
Case report: A 4 years old girl, with neonatal diagnosis of enlarged anterior and posterior fontanelle, presented to the pediatric department for an episode of loss of consciousness
[docksci.com]
[…] speech difficulties (90%), hypotonia (67%), hirsutism (75%), capillary nevus of the forehead or the nape (>50%), and cryptorchidism (78% of males). [3] Also described are large
[faoj.org]
His anterior fontanelle was large. He had bilateral microtia (Figure 1k). He also had hypospadias and a sacral dimple.
[nature.com]
His anterior fontanelle was large. He had bilateral microtia ( Figure 1k ). He also had hypospadias and a sacral dimple.
[nature.com]
A skeletal survey confirmed similar changes to his brother with a large anterior fontanelle and thickened but not sclerotic frontal bones.
[nature.com]
At birth, a right femoral fracture, bilateral dislocation of the hips, extreme joint hypermobility (especially the knees), large anterior and posterior fontanelles, and frontal
[jmg.bmj.com]
Extensive agenesis of the frontal and parietal bones, resulting in a very large fontanelle, in addition to coronal bilateral craniosynostosis was observed at necropsy.
[ihop-net.org]
Unilateral coronal synostosis is a frequently seen form of craniosynostosis that results in an anterior plagiocephalic shape to the ipsilateral forehead and orbit.
[ihop-net.org]
anterior fontanelle macrocephaly enlarged skull (large head) elongated skull large neurocranium small chondocrnium high forehead flat face small face micrognathia +/- Robin
[humpath.com]
Large anterior fontanelle; Macrocephaly; High forehead; Flat, small face; Micrognathia; Low-set ears; Hearing loss; Hypertelorism; Short palpebral fissures; Depressed nasal
[ibis-birthdefects.org]
[…] anomalies short limb dwarfism, prenatal onset birth length 35-49 cm low-normal range birth weight failure to thrive in survivors polyhydramnios (+/- 30%) craniofacial anomalies large
[humpath.com]
fontanelle, and craniofacial dysmorphism (including microcephaly, hypertelorism, downslanting palpebral fissures, large, prominent nasal root with funnel nose, small, low-set
[findexpertmd.com]
wide open anterior fontanelle, medial epicanthal folds, depressed nose, long philtrum, and small mouth [Figure 1a].
[ncbi.nlm.nih.gov]
wide open anterior fontanelle, medial epicanthal folds, depressed nose, long philtrum, and small mouth [Figure 1]a.
[idoj.in]
fontanel Wider-than-typical soft spot of skull 0000260 Wide mouth Broad mouth Large mouth [ more ] 0000154 Wide nasal bridge Broad nasal bridge Broad nasal root Broadened
[rarediseases.info.nih.gov]
[…] head * Large anterior fontanel * Prominent forehead * Frontal hair upsweep * Widely spaced eyes * Prominent lower lip * Small ears * Simple ears * Face wrinkles * Fine hair
[checkorphan.org]
[…] vermilion Increased volume of lower lip Plump lower lip Prominent lower lip [ more ] 0000179 Umbilical hernia 0001537 Underdeveloped superior crus of antihelix 0011246 Wide anterior
[rarediseases.info.nih.gov]
fontanel Wider-than-typical soft spot of skull 0000260 Wide mouth Broad mouth Large mouth [ more ] 0000154 Wide nasal bridge Broad nasal bridge Broad nasal root Broadened
[rarediseases.info.nih.gov]
[…] for length or height, with or withoutlarge anterior fontanelle; Defects in sensory integration; oral tactile aversion.
[litfl.com]
[…] vermilion Increased volume of lower lip Plump lower lip Prominent lower lip [ more ] 0000179 Umbilical hernia 0001537 Underdeveloped superior crus of antihelix 0011246 Wide anterior
[rarediseases.info.nih.gov]
[…] head * Large anterior fontanel * Prominent forehead * Frontal hair upsweep * Widely spaced eyes * Prominent lower lip * Small ears * Simple ears * Face wrinkles * Fine hair
[checkorphan.org]
Abnormal EEG * Seizures * Strabismus * Hyperactivity * Short attention span * Affable personality * Extroverted personality * Temper tantrums when frustrated * Short stature * Large
[checkorphan.org]
Costello syndrome is characterised by dwarfism, unique cutaneous lesions, a distinct facial gestalt, and mental retardation. There have been no detailed reports of severe spinal deformities requiring surgical treatment as a complication of Costello syndrome. We report a case of a 10-year-old girl with progressive[…]
[ncbi.nlm.nih.gov]
What Is Velocardiofacial Syndrome (VCFS) or 22q11 Deletion Syndrome? Velocardiofacial syndrome, or 22q11 deletion syndrome, is known by many names, including Shprintzen syndrome, craniofacial syndrome, DiGeorge syndrome, or conotruncal anomaly face syndrome. The name velocardiofacial syndrome comes from the Latin[…]
[cincinnatichildrens.org]
Clinical description Dysmorphism includes triangular old-looking face, relatively large skull with large anterior fontanelle and prominent veins especially on the scalp, sparse
[orpha.net]
Abnormal findings included a generalized virtual absence of subcutaneous fat, sparse scalp hair, prominence of veins and muscles, a large and persistent anterior fontanelle
[lib.ugent.be]
Features can also involve head and neck (large anterior fontanel, posteriorly rotated ears, absent uvula, crowded teeth, prominent eyes), heart (right ventricular outlet obstruction
[accessanesthesiology.mhmedical.com]
In this figure of the same infant note the marked frontal bossing, the large anterior fontanelle, the short nose, long philtrum, and micrognathia. 3.39 Figure 3.39.
[rrnursingschool.biz]
These infants have slight to moderate shortness of stature, macro-cephaly, a large anterior fontanelle, and frontal bossing with apparent hyper-telorism, a short nose with
[rrnursingschool.biz]
Infants with Zellweger syndrome present with flattened facies, large anterior fontanel, split sutures, a prominent high forehead, a flattened occiput, upslanting palpebral
[ela-asso.com]
Infants present with characteristic dysmorphic craniofacial features (flattened facies, large anterior fontanel, split sutures, prominent high forehead, flattened occiput,
[orpha.net]
Zellweger syndrome [ zel´weg-er ] an autosomal recessive inborn error of metabolism characterized by a prominent forehead, large anterior fontanelle, poor muscle tone, hepatomegaly
[medical-dictionary.thefreedictionary.com]
Craniofacial abnormalities reported include: high forehead; hypoplastic supraorbital ridges; epicanthal folds; midface hypoplasia; and large anterior fontanelle.
[ncbi.nlm.nih.gov]
FIGURE 1 Facial dysmorphism (high forehead, large anterior fontanelle, hypoplastic supraorbital ridges, epicanthal folds, and deformed earlobes) in the patient with IRD.
[pediatrics.aappublications.org]
It affects many parts of the body, including: Head and face: enlarged head; high forehead; large anterior fontanelle ("soft spot"); malformed earlobes; flat-looking face Brain
[verywell.com]
Of 20 patients, 19 showed positive signs of a large anterior fontanelle while only one showed no sign of a large anterior fontanelle.
[musicboys.wordpress.com]
The younger sister has left-sided diaphragmatic hernia, severe hypertelorism, anomalies of corpus callosum, large anterior fontanel, and hearing loss.
[cags.org.ae]
Even in an instance when a patient is found to have an anterior congenital diaphragmatic hernia, agenesis of the corpus callosum, a large anterior fontanelle, or any other
[musicboys.wordpress.com]
Physical findings: • Growth deficiency of limbs of less than 5%; • Platyspondyly of the vertebrae; • Large anterior fontanel; ICD-9: 756.4 TREATMENT Treatment measures of
[secure.ssa.gov]
Physical findings: • Growth deficiency of limbs of less than 5%; • Platyspondyly of the vertebrae; • Large anterior fontanel; ICD-9: 756.4 PROGRESSION Newborns with TD1 are
[secure.ssa.gov]
Neonates are macrocephalic with a large anterior fontanelle, frontal bossing, severe midface hypoplasia and proptosis. The thorax is narrow and bell-shaped.
[orpha.net]
We report a family with a dominantly inherited craniofacial phenotype comprised of frontal bossing with high hairline, ptosis, hypertelorism, broad nasal tip, large anterior
[pubmed.ncbi.nlm.nih.gov]
fontanelle, cranial base anomalies, and sagittal synostosis.
[pubmed.ncbi.nlm.nih.gov]
Such opposing phenotypes, cranial synostosis in dup(1)(p36)and large late closing anterior fontanels in del(1)(p36) is probably corraleted to a gene that regulates suture
[ncbi.nlm.nih.gov]
In a study by Rivera et al. [1985], a 2-month-old male patient presenting with delayed growth and development, brachycephaly, large anterior fontanelle, low-set folded ears
[karger.com]
Physical features were significant for large anterior fontanelle and slight coarsening of facial appearance.
[scielo.br]
