Possible Causes for large anterior fontanels Acrocallosal Syndrome 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] Congenital Non-Goitrous Hypothyroidism Type 4 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] Monosomy 1p36 Syndrome 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] Distinct facial features including: Large anterior fontanel ( 100% of patients) Small and pointed chin ( 80%) Flat nasal bridge ( 65%) Clinodactyly and/or short fifth finger [en.wikibooks.org] Autosomal-Recessive Robinow Syndrome Symptoms - Robinow syndrome- autosomal recessive * Vertebral anomalies * Short stature * Large head * Large anterior fontanel * Frontal bossing Causes - Robinow syndrome- [checkorphan.org] short stature, mesomelic limb shortening, brachydactyly, large anterior fontanel, hypertelorism, prominent eyes, bilateral epicanthic folds, wide down‐slanting palpebral [databases.lovd.nl] Oculopalatoskeletal Syndrome 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] 8] This was absent in our case (except for micrognathia), but has been reported in some previous reports of Michels syndrome. [1], [2], [3], [4], [5], [6], [8] Some have large [ijo.in] Rubinstein-Taybi Syndrome 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] Dermatosparaxis 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] Costello Syndrome Costello syndrome is a rare genetic disorder with an estimated 300 medical cases worldwide. Typical features that characterize this syndrome include short stature, macrocephaly, developmental delay, loose skin folds, distinctive coarse facial features, and multiorgan system anomalies. The following case report[…] [ncbi.nlm.nih.gov] Cerebellotrigeminal Dermal Dysplasia 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] Velocardiofacial Syndrome Velocardiofacial syndrome is the most common microdeletion syndrome in humans. It is secondary to a chromosome 22q11 rearrangement and is characterized by craniofacial abnormalities, heart defects and learning disability. We report a case of a 10-year-old girl with a chromosome 22q11 deletion who, in addition to[…] [ncbi.nlm.nih.gov] Wiedemann-Rautenstrauch Syndrome 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 [ncbi.nlm.nih.gov] Robinow Syndrome 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] —A 9-month-old black female infant with a negative family history and bilateral epiphora since birth had macrocrania, a large anterior fontanelle, frontal bossing, hypertelorism [jamanetwork.com] 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] Zellweger Syndrome Infants present with characteristic dysmorphic craniofacial features (flattened facies, large anterior fontanel, split sutures, prominent high forehead, flattened occiput, [orpha.net] 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] 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] High Myopia-Sensorineural Deafness Syndrome 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] Frontonasal Dysplasia We report a family with a dominantly inherited craniofacial phenotype comprised of frontal bossing with high hairline, ptosis, hypertelorism, broad nasal tip, large anterior [ncbi.nlm.nih.gov] A very large anterior fontanelle with delayed closure was present in 6/18. [nature.com] fontanelle, cranial base anomalies, and sagittal synostosis. [ncbi.nlm.nih.gov] Infantile Refsum Disease 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] Juvenile Cystinosis الصفحة 53 - Infants with ZS present in the neonatal period with characteristic dysmorphic features (prominent forehead, large anterior fontanelle, broad nasal bridge, epicanthal [books.google.com] Seite 53 - Infants with ZS present in the neonatal period with characteristic dysmorphic features (prominent forehead, large anterior fontanelle, broad nasal bridge, epicanthal [books.google.de] Atopic Dermatitis Eventually, this child presented with signs of infection and increased intracranial pressure: fever, bulging anterior fontanel, and leukocytosis. [ncbi.nlm.nih.gov] A computed tomography scan identified a large frontal lobe brain abscess. The abscess was surgically drained; culture was positive for Staphylococcus aureus. [ncbi.nlm.nih.gov] Thanatophoric Dysplasia 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] Coffin-Lowry Syndrome A persistent large anterior fontanel beyond the age of two years may be another associated finding. [ncbi.nlm.nih.gov] Involvement of the head and neck can present as thickened calvarium, small sinuses paranasales, flat occiput, delayed suture closure with large anterior fontanelle, prominent [accessanesthesiology.mhmedical.com] […] supraorbital ridges with bushy brows, downwardly slanted palpebral fissures, hypertelorism, blepharoptosis, large and prominent ears, large nose with broad base and elongated [accessanesthesiology.mhmedical.com] Hypothyroidism […] 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] Symptoms and signs include the following: Decreased activity Large anterior fontanelle Poor feeding and weight gain Small stature or poor growth Jaundice Decreased stooling [emedicine.medscape.com] 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] Aarskog-Scott Syndrome anterior fontanel. ( 27544718 ) ParA ltay E....A9zkan B. 2016 7 Identifying Aarskog Syndrome. ( 28209013 ) Ahmed A...Hasoon U 2016 8 Identification of novel mutations in [malacards.org] anterior fontanel. ( 27544718 ) ParA ltay E....A9zkan B. 2016 6 Identification of novel mutations in Mexican patients with Aarskog-Scott syndrome. ( 26029706 ) PAcrez-Coria [malacards.org] Clinical description In ACS, craniofacial anomalies include macrocephaly with protruding forehead and occiput, hypertelorism, large anterior fontanel, short mandible and nose [orpha.net] Thrombosis The patient presented at 3 months of age with increased head circumference and a bruit over his anterior fontanelle. [ncbi.nlm.nih.gov] Diagnostic cerebral angiography confirmed the presence of a large mural-type VoGM. [ncbi.nlm.nih.gov] Kenny-Caffey Syndrome Type 1 anterior fontanel * Underdeveloped nails * Narrow long-bone shafts * Thickening of long bones * Thin marrow bone cavities of long bones * Craniofacial disproportion * Transient [checkorphan.org] Signs and Symptoms: Low birth weight Low calcium levels Abnormally large anterior fontanel, which is the tissue covering the joint between the bones of the head. [amazingwristbands.com] 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] Platyspondyly There was midface hypoplasia, a large anterior fontanel, micrognathia, and hypoplastic, wafer-thin vertebrae. [bases.bireme.br] anterior fontanel Cloverleaf-shaped skull due to premature closure of the cranial sutures Marked bilateral shortening of the limbs (micromelia) with redundant skin folds [disabled-world.com] […] hands Large iliac wings Flat occiput Arnold-Chiari malformation Melanocytic nevus Leukemia Round face Pseudopapilledema Wide anterior fontanel Nephropathy Dysarthria Hypercalciuria [mendelian.co] Preeclampsia • Large head when compared to rest of the body (brain sparing effect) • Large and wide anterior fontanelle (poor formation of membranous bones) • Absent buccal fat (old [doi.org] Autosomal Recessive Isolated Optic Atrophy Patients have a characteristic facies with a broad forehead and large anterior fontanelle. [mhmedical.com] Ectropion Cranial abnormalities include a coronal synostosis with wide-open anterior and posterior fontanelles and large parietal foramina. [ncbi.nlm.nih.gov] Chronic Otitis Media Clinical rickets was present in four cases, who had features of frontal bossing, widening of the wrists, large anterior fontanelle or a rachitic rosary. [nature.com] Raine Syndrome Association of: facial dysmorphism: the exaggerated ossification of the bones of the base of the skull and face leads to: - narrow forehead, with a large anterior fontanel [sites.uclouvain.be] The baby presented at birth with severe craniofacial anomalies including a wide anterior fontanelle, exophthalmos, severe depression of the nasal bridge with a hypoplastic [ncbi.nlm.nih.gov] fontanelle, exophthalmos, bilateral choanal atresia, large protruding tongue Not Reported Not Reported Al-Gazali et al., 2003 [ 24 ] Simpson et al., 2007 [ 21 ] 3 c.1121T [bmcmedgenet.biomedcentral.com]
