Create issue ticket

16 Possible Causes for Agenesis of the Occipital Lobes, Microcephaly

  • Congenital Muscular Dystrophy

    Uncommonly, agenesis of septum pellucidum can be seen. Polymicrogyria typically seen in the frontal and parietal lobes.[neuroradiologycases.com] In addition, our patient displayed primary microcephaly, not previously reported associated with fukutin mutations.[ncbi.nlm.nih.gov] […] report different compound heterozygous POMT1 mutations in four unrelated families that result in a less severe phenotype than WWS, characterized by CMD with calf hypertrophy, microcephaly[ncbi.nlm.nih.gov]

  • Occipital Encephalocele

    MRI also showed mild hydrocephalus, hypoplasia of the corpus callosum and tentorium cerebelli, dropping down of the bilateral occipital lobes and vermicular agenesis.[link.springer.com] Cerebral tissue in the sac and associated microcephaly are bad prognostic features.[ncbi.nlm.nih.gov] Prenatal sonograms revealed polyhydramnios, subgaleal edema, microcephaly, a narrow thorax, pericardial effusion, and a severe short-limbed dwarfism with unossified tubular[ncbi.nlm.nih.gov]

  • Ring Chromosome 19

    […] of the corpus callosum and mild changes in the white matter in the occipital lobes; several generalized tonic-clonic seizures started at 1 year of age.[ssmc-tl.com] We report on a patient with severe intellectual disability, microcephaly, short stature, and dysmorphic features who, based on standard karyotyping, has two cytogenetic abnormalities[ncbi.nlm.nih.gov] When the patient was 8-month old, microcephaly was recognized with the head circumference of 42 cm (3 percentile).[eymj.org]

  • Crossed Polysyndactyly

    Children with RSTS typically have a small head (microcephaly), below the 5th percentile.[rarediseases.org] Computerized to- mography showed severe craniofacial anomalies, cranio- nasal dysostosis, hypertelorism, areas of pachygyria in the left occipital lobe, and agenesis of the[documentslide.com] Retrognathia Heterotopia Growth delay Brain atrophy Hypoplasia of the corpus callosum Infantile onset Pica Autosomal dominant inheritance Delayed speech and language development Microcephaly[mendelian.co]

  • Femoral Agenesis - Femoral Hypoplasia

    (A) and parietal (B) lobes on both sides Click here to view Figure 4 :Caudal regression syndrome (complete agenesis of sacrum): Frontal radiograph of the pelvis shows a contracted[ijri.org] Microcephaly 21 A-2. FACE DEVELOPMENT 21 FACIAL ANOMALIES 24 A-2.1. Facial Clefts 24 A-2.2. Nasal Bone Hypoplasia/Aplasia 25 A-2.3.1. Cleft Lip 25 A-2.3.2.[wiley-vch.de] Agenesis of the corpus callosum See embryology Dandy-Walker cyst Echogenic brain focus or foci Encephalocele Holoprosencephaly Intracranial cyst Clover leaf skull Macrocephaly Microcephaly[ultrasoundpaedia.com]

  • Femoral Hypoplasia

    ; these include fibular hemimelia and talipes equinovarus and rarely include oligodactyly, tibia bone bending, absence of the knee cross ligaments, spinal dysraphism and microcephaly[sjmms.net] (A) and parietal (B) lobes on both sides Click here to view Figure 4 :Caudal regression syndrome (complete agenesis of sacrum): Frontal radiograph of the pelvis shows a contracted[ijri.org] […] an absent falx cerebri (open arrow) Click here to view Figure 3 :(A,B)Neonatal hypoglycemia: CT scan of the brain shows typical low attenuation in the white matter of the occipital[ijri.org]

  • Pachygyria-Mental Retardation-Seizures

    Semi lobar: Partial separation of the posterior occipital and temporal lobes. Frontal brain is fused, thalami partially fused.[spinwarp.ucsd.edu] Treato found 45 discussions about Pachygyria and Microcephaly on the web.[treato.com] CT showed findings consistent with agenesis of the left parietal and partly also temporal lobe.[documents.tips]

  • Meconium Plug Syndrome

    - meningoencephalomyelitis, due to toxoplasma or toxoplasmosis, congenital P37.1† G05.2* -髄膜脳脊髄炎、トキソプラズマによる、先天性 P37.1† G05.2* 参照項目、コードの追加 - microcephalus, microcephalic, microcephaly[mhlw.go.jp] (A) and parietal (B) lobes on both sides Click here to view Figure 4 :Caudal regression syndrome (complete agenesis of sacrum): Frontal radiograph of the pelvis shows a contracted[ijri.org] […] an absent falx cerebri (open arrow) Click here to view Figure 3 :(A,B)Neonatal hypoglycemia: CT scan of the brain shows typical low attenuation in the white matter of the occipital[ijri.org]

  • Commissural Facial Cleft

    Alobar prosencephaly is the most severe form and features anophthalmia; cyclopia; severe MENTAL RETARDATION; CLEFT LIP; CLEFT PALATE; SEIZURES; and microcephaly.[bioportfolio.com] The cephalocele sac variably includes the brainstem, occipital lobes, subarachnoid or ventricular CSF spaces, and the dural venous sinuses.[kundoc.com] Single eye in a single orbit, arrhinia with proboscis often located above the single orbit and microcephaly ( Fig. 33.2 ) 2. Ethmocephaly 2.[plasticsurgerykey.com]

  • Chromosome 17p13.1 Deletion Syndrome

    agenesis Occipital meningocele Cystic liver disease Urethral obstruction True hermaphroditism Large placenta Hypoplasia of the bladder Cerebral hypoplasia Urethral atresia[mendelian.co] […] characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly[malacards.org] […] by mild global developmental delay / intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly[rarediseases.info.nih.gov]

Further symptoms

Similar symptoms