Prominent Occiput: Causes & Reasons

Possible Causes for Prominent Occiput

Prominent occiput. Deep-set eyes. Scoliosis. Micropenis. Cryptorchidism. [medigoo.com]

occiput Prominent back of the skull Prominent posterior skull [ more ] 0000269 Short nose Decreased length of nose Shortened nose [ more ] 0003196 Sloping forehead Inclined [rarediseases.info.nih.gov]

[…] delay Delayed growth Growth deficiency Growth failure Growth retardation Poor growth Retarded growth [ more ] 0001510 Inguinal hernia 0000023 Preauricular skin tag 0000384 Prominent [rarediseases.info.nih.gov]

Beckwith-Wiedemann Syndrome

A prominent occiput Hypoplasia of the midface Hemihypertrophy Kidney enlargement Heart abnormalities Musculokeletal abnormalities Hearing loss Adrenal enlargement Beckwith-wiedemann [syndromespedia.com]

Facial abnormalities: Large, prominent eyes. Creases in earlobes and pit behind the upper ear. Pinna abnormalities, low-set ears. Raised fontanelle, prominent occiput. [patient.info]

Metopic ridge, prominent on forehead due to early closure of fontanelle. Others: Seizures. Cryptorchidism. Early bone maturation. [patient.info]

Blepharophimosis - Intellectual Disability Syndrome Type Verloes

occiput Prominent back of the skull Prominent posterior skull [ more ] 0000269 Proteinuria High urine protein levels Protein in urine [ more ] 0000093 Ptosis Drooping upper [rarediseases.info.nih.gov]

Over time, fat pads may become less prominent and disappear. [mendelian.co]

The skull is acrocephalic with a shortened anteroposterior diameter and a flat occiput. The craniosynostosis involves the coronal suture. The forehead is prominent. [emedicine.medscape.com]

Lytic Bone Lesion

Facial dysmorphic features include bathrocephaly with prominent occiput, mild hypertelorism with telecanthus, downslanted eyes with bushy eyebrows (synophrys), low-set ears [orpha.net]

occiput / occipital bossing - Scoliosis - Short neck - Telecanthus / canthal dystopy - Thin / retracted lips - Wormian bones Occasional - Abnormal cry / voice / phonation [csbg.cnb.csic.es]

[…] mandibula / partial absence of the mandibula - Macrocephaly / macrocrania / megalocephaly / megacephaly - Microstomia / little mouth - Mutiple fractures / bone fragility - Prominent [csbg.cnb.csic.es]

Monosomy 21q

In the later case, the most common clinical features include intrauterine and postnatal growth retardation, microcephaly, prominent occiput, and facial dysmorphism characterized [orpha.net]

[…] by up or down-slanted small palpebral fissures, prominent nasal bridge with a broad nose, and large ears. [orpha.net]

Trisomy 9

The salient clinical features observed were small face, wide fontanel, prominent occiput, micrognathia, low set ears, upslanting palpebral fissures, high arched palate, short [ncbi.nlm.nih.gov]

An infant with complete trisomy 9 surviving 20 days after birth showed clinical features including a small face, wide fontanelle, prominent occiput, micrognathia, low set [en.wikipedia.org]

Multiple Congenital Anomalies - Hypotonia - Seizures Type 3

[…] type (Prominent occiput) Acrocallosal syndrome (Prominent occiput) Acroosteolysis dominant type (Prominent occiput) Acroosteolysis (Prominent occiput) Al Gazali syndrome [familydiagnosis.com]

occiput, Grade II harsh systolic cardiac murmur, left cryptorchidism, diastasis recti, single umbilical artery, single transverse palmar creases, and hypotonia. [nature.com]

short neck, rounded facies with prominent cheeks, high prominent forehead, hypertelorism, epicanthic folds, broad nasal bridge and other facial dysmorphism. [epilepsydiagnosis.org]

Trisomy 18

Mfected infants are typically born with a prominent occiput, short eye fissures with droopy eyelids, micrognathia, external ear variations, clenched fist with index finger [ncbi.nlm.nih.gov]

Microcephaly, prominent occiput, low-set malformed ears, narrow pelvis, and a short sternum are common. [merckmanuals.com]

occiput, low-set malformed ears, and a characteristic pinched facial appearance. [merckmanuals.com]

Multiple Congenital Anomalies - Hypotonia - Seizures Type 2

Sandrine Dubois4, Vassili Valayannopoulos4, Eliane Depondt5, Chris Ottolenghi6 & […] Daniel Rabier6 Chapter 867 Accesses Résumé Les vitamines hydrosolubles sont des substances non synthétisées par l’organisme et apportées exclusivement par l’alimentation. Des déficits du métabolisme des vitamines peuvent être d’origine[…] [link.springer.com]

Syndromic Multisystem Autoimmune Disease

Lohr, N. J., Molleston, J., Strauss, K. A., Torres-Martinez, W., Sherman, E. A., Squires, R. H., ... Puffenberger, E. G. (2010). Human ITCH E3 Ubiquitin Ligase Deficiency Causes Syndromic Multisystem Autoimmune Disease. American Journal of Human Genetics, 86 (3), 447-453. https://doi.org/10.1016/j.ajhg.2010.01.028 Human ITCH E3[…] [indiana.pure.elsevier.com]

Microcephalic Osteodysplastic Primordial Dwarfism Types 1 and 3

Citation metadata Document controls Main content Abstract : El Síndrome Meir Gorlin (SMG) (#224690), es conocido también como Síndrome "oído-patela-talla baja". Es causado principalmente por una mutación en el gen ORC1, ubicado en el cromosoma 1p32. Presenta heterogeneidad genética, existen 6 tipos. Se[…] [go.gale.com]

Congenital Disorder of Glycosylation Type 2B

Sandrine Dubois4, Vassili Valayannopoulos4, Eliane Depondt5, Chris Ottolenghi6 & […] Daniel Rabier6 Chapter 848 Accesses Résumé Les anomalies congénitales de glycosylation ou CDG (Congenital Disorders of Glycosylation) forment une classe d’erreurs innées du métabolisme, affectant la synthèse des glycannes des[…] [link.springer.com]

Mosaic Trisomy 18

Mild craniofacial dysmorphy included dolichocephaly, frontal bossing, prominent occiput, long downslanting palpebral fissures, hypertelorism, and retrognathia. [hindawi.com]

On examination, she had a globular head with a prominent occiput, short sternum and small facial features. [wjpch.com]

Trisomy 18 is clinically associated with ≥50% of anomalies including craniofacial abnormalities such as prominent occiput, narrow bifrontal diameter, low-set and malformed [spandidos-publications.com]

Hajdu-Cheney Syndrome

In many affected individuals, the bone at the back of the skull bulges outward, causing a bump called a prominent occiput. [encyclopedia.pub]

Complex Cortical Dysplasia with other Brain Malformations Type 1

[…] eye folds [ more ] 0000286 Flat occiput 0005469 Focal-onset seizure Seizure affecting one half of brain 0007359 Genu valgum Knock knees 0002857 Grasp reflex 0030903 High [rarediseases.info.nih.gov]

Downward slanting of the opening between the eyelids 0000494 Dysarthria Difficulty articulating speech 0001260 Dysgenesis of the hippocampus 0025101 Epicanthus Eye folds Prominent [rarediseases.info.nih.gov]

Teebi-Shaltout Syndrome

Craniofacial anomalies included scaphocephaly with prominent occiput and bitemporal depression, hypertelorism, ptosis and blepharophimosis, bulbous nose with hypoplastic alae [findzebra.com]

Acroosteolysis

Facial dysmorphic features include bathrocephaly with prominent occiput, mild hypertelorism with telecanthus, downslanted eyes with bushy eyebrows (synophrys), low-set ears [orpha.net]

Colobomatous Microphthalmia - Rhizomelic Dysplasia Syndrome

occiput - low set ears - horseshoe kidneys - microcephaly - heart defects (VSD) - AD inheritance - facial angiofibromas (adenoma sebaceum) - shagreen patch, periungal fibromas [quizlet.com]

occiput, short sternum, ectopic pancreatic tissue, small pelvis, low arch dermal ridge, pattern on finger tips Horseshoe kidney, cryptochoridsm Cardiovascular features of [studyblue.com]

occiput, small face, almond-shaped palpebral fissures, prominent nasal bridge, long nose, long and flat philrum, small prominent ears, small down-turned mouth, high arched [chr7.org]

Fibular Dimelia-Diplopodia Syndrome

[…] metopic suture Prominent occiput/occipital bossing Scalp/skull defect Sloping forehead Turricephaly/oxycephaly/acrocephaly Wormian bones Face/facial anomalies Facial cleft [readbag.com]

[…] anomalies Basilary impression/invagination/cranio-spinal malformation/platybasia Bifid skull Broad forehead Craniostenosis/craniosynostosis/sutural synostosis Brachycephaly/flat occiput [readbag.com]

Cloverleaf skull Dolichocephaly/scaphocephaly Plagiocephaly Trigonocephaly Dense/thickened skull/calvarium/cranial/facial hyperostosis Frontal bossing/prominent forehead [readbag.com]

Partial Trisomy 17p

On physical examination, she was found to have microcephaly, open fontanelles, a prominent forehead, a flat occiput, hypertelorism, sparse eyebrows, a small nose with a depressed [ncbi.nlm.nih.gov]

Char Syndrome

occiput / occipital bossing - Somnolence / hypersomnia / parasomnia - Strabismus / squint - Supernumerary nipples / polythelia - Symphalangy of fingers - Syndactyly of toes [csbg.cnb.csic.es]

occiput, persistence of the deciduous teeth in the absence of permanent dentition, and somnambulism. [orpha.net]

[…] oligodontia / hypodontia - Hearing loss / hypoacusia / deafness - Intellectual deficit / mental / psychomotor retardation / learning disability - Myopia - Polydactyly of toes - Prominent [csbg.cnb.csic.es]

Congenital Intrauterine Infection-Like Syndrome

C, Lateral skull radiograph in a newborn showing partial collapse of the cranial bones with prominent occiput. [jamanetwork.com]

occiput (75%), and excess nuchal skin (47.9%).38 Features supportive of the FBDS phenotype scattered through published reports include redundant scalp,27,36,39,41 occipital [jamanetwork.com]

[…] series, most infants with probable congenital ZIKV infection were noted to have craniofacial disproportion (95.8%) and, to a lesser degree, biparietal depression (83.3%), prominent [jamanetwork.com]

Trisomy 9q32

Cerebral and craniofacial malformations are constant (Dandy-Walker cyst; subependymal cysts; ventricular dilatation of the brain; microcephaly; prominent occiput micrognathia [accessanesthesiology.mhmedical.com]

[…] of the back region of the head (occiput), and/or additional associated anomalies. [rarediseases.org]

[…] malformation, cystic malformation of the fourth ventricle of the brain may lead to hydrocephalus, a rapid increase in head size – already defined in this paragraph, with increased prominence [rarediseases.org]

Blepharophimosis-Intellectual Disability Syndrome Type Ohdo

occiput Abnormality of the nervous system Intellectual disability Intellectual disability, severe Motor delay Ear malformation Low-set ears Posteriorly rotated ears IMPORTANT [ncbi.nlm.nih.gov]

[…] endocrine system Hypothyroidism Abnormality of the genitourinary system Cryptorchidism Abnormality of the musculoskeletal system Generalized hypotonia Microcephaly Micrognathia Prominent [ncbi.nlm.nih.gov]

Woodhouse-Sakati Syndrome

triangular face, prominent nasal root, hypertelorism, and down-slanting palpebral fissures), scoliosis, hyperreflexia, and camptodactyly. [orpha.net]

triangular face, prominent nasal root, hypertelorism, downward slanting palpebral fissures), scoliosis, hyperreflexia and camptodactyly. [sites.uclouvain.be]

triangular face, prominent nasal root, hypertelorism, and down- slanting palpebral fissures), scoliosis, hyperreflexia, and camptodactyly. [rareguru.com]

Oculopalatoskeletal Syndrome

The first case was a female who had a prominent occiput, prominent eyes with hypertelorism, and bilateral corneal opacities. [cags.org.ae]

Trisomy 18p

The classic physical findings include prominent occiput, clenched hands, and usually significant structural heart defects. [healthtap.com]

Note prominent occiput, micrognathia, low-set ears, short sternum, narrow pelvis, prominent calcaneus, and flexion abnormalities of the fingers. (Courtesy of Robert E. [ldysinger.com]

She was noted to have dysmorphic features (prominent occiput, high-arched palate, short nose with anteverted nares, orbital hypertelorism, depressed nasal root, low set ears [synapse.koreamed.org]

Nevus Sebaceous

occiput Prominent back of the skull Prominent posterior skull [ more ] 0000269 Reduced tendon reflexes 0001315 Seizures Seizure 0001250 Telecanthus Corners of eye widely [rarediseases.info.nih.gov]

0001249 Iris coloboma Cat eye 0000612 Melanocytic nevus Beauty mark 0000995 Microphthalmia Abnormally small eyeball 0000568 Muscular hypotonia Low or weak muscle tone 0001252 Prominent [rarediseases.info.nih.gov]

Trisomy

Microcephaly, prominent occiput, low-set malformed ears, narrow pelvis, and a short sternum are common. [msdmanuals.com]

Typical facies of trisomy 18 consist of micrognathia, small triangular mouth, short upper lip, high palate, and a prominent occiput (2). [pubs.rsna.org]

They have a small head size, with a prominent back of the head (occiput). [aboutkidshealth.ca]

Microcephalic Osteodysplastic Primordial Dwarfism Type II

Clinical description The facial dysmorphism is characterized by a round face, metopic ridge, small anterior fontanelle, a sloping forehead, prominent occiput, protruding eyes [orpha.net]

[…] nose ; Prominent occiput ; Proptosis ; Renal cyst ; Renal hypoplasia ; Seizures ; Short femur ; Short humerus ; Short metacarpal ; Short neck ; Shoulder flexion contracture [mousephenotype.org]

prominent nose, small dysplastic ears and micrognathia. [orpha.net]