Possible Causes for Normocephaly Pseudoachondroplasia Abstract Cartilage oligomeric matrix protein (COMP), a large pentameric glycoprotein and member of the thrombospondin (TSP) group of extracellular proteins, is found in the territorial matrix surrounding chondrocytes. More than 50 unique COMP mutations have been identified as causing two skeletal dysplasias:[…] [ncbi.nlm.nih.gov] Cartilage Hair Hypoplasia Pour citer ce document : URI: http://hdl.handle.net/2042/38617 | DOI : https://doi.org/10.4267/2042/38617 Title: Cartilage-hair hypoplasia (CHH) Author: Hermanns, P ; Lee, B Description: Review on Cartilage-hair hypoplasia (CHH), with data on clinics, and the genes involved. Subject: Chromosome 9; Metaphyseal[…] [documents.irevues.inist.fr] Ellis-Van Creveld Syndrome Read Online or Download proven correctly rounded logarithm in double-precision PDF Similar electronics: radio books ADSL,VDSL and multicarrier modulation The cutting-edge of multicarrier modulation for the transmission of high-speed facts With DSL know-how poised to supply the quickest technique of net entry for[…] [lafontdeprades.cat] Diastrophic Dysplasia Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips). Heritability: Autosomal recessive inheritance AKA:[…] [monarchinitiative.org] Macrocephaly Type Fryns Causes[edit] Macrocephaly (right) vs. normocephaly (left) Many people with abnormally large heads or large skulls are healthy, but macrocephaly may be pathological. [en.wikipedia.org] Sanjad-Sakati Syndrome However, cortical thickening of the long bones with medullary stenosis, macrocephaly/normocephaly, normal mentality, cellular immune defects and absence of diploic space in [emro.who.int] Sakati Syndrome This syndrome has to be differentiated from Kenny-Caffey Syndrome which often shows cortical thickening of long bones with medullary stenosis, macrocephaly or normocephaly [alliedacademies.org] However, cortical thickening, medullary stenosis, macrocephaly/normocephaly, normal mentality, cellular immune defects and absence of the diploic space in the skull are additional [emro.who.int] Craniosynostosis Type 6 Right: skull shape; N: normocephaly; S: scaphocephaly; P: pachycephaly; B: brachycephaly; Pl*: plagiocephaly. [link.springer.com] Skull shape No specific skull shape abnormality (normocephaly) could be detected in 51% of all MPS patients (Tables 1 and 2). [link.springer.com] Temporal Lobe Disorder Figures 2 and 3 compare each temporal lobe structure by the five group classifications: autism with normocephaly, autism with macrocephaly, controls with normocephaly, controls [ajnr.org] normocephaly, controls with benign macrocephaly, and controls with reading disorders). [ajnr.org] No heterotopias were identified, but, as can be seen, the autistic subjects with normocephaly had the highest frequencies of clinical abnormalities noted. [ajnr.org] Congenital Disorder of Glycosylation Type 1H Generalized, severe cutis laxa, dry skin, sparse hair, normocephaly (OFC: 33 cm −1SD), large anterior fontanel (5 × 6 cm), midfacial hypoplasia, anteverted nares, long philtrum [nature.com] Hemimegalencephaly Although normocephaly is often present, macrocephaly may be pronounced and normal vaginal delivery may be impossible. [radiopaedia.org] […] hemiparesis, hemianopia, psychomotor retardation, focal and generalized infantile spasms, focal motor deficits, intractable seizures, developmental delays, macrocephaly, or normocephaly [wajradiology.org] Isolated Synostotic Plagiocephaly Normal: Normocephaly Sagittal: Scaphocephaly Coronal bilateral: brachycephaly Coronal unilateral: anterior plagiocephaly Lambdoid unilateral: posterior plagiocephaly Metopic [quizlet.com] Congenital Cerebral Cyst On physical examination child had normocephaly, no dysmorphism of face. Anterior fontanelle was normal. Sutures were widely normal. [ispub.com] On physical examination, the child had normocephaly, no dysmorphism of face. Anterior fontanelle was normal. Sutures were widely normal. [npmj.org] Craniosynostosis Type 3 Normal: Normocephaly Sagittal: Scaphocephaly Coronal bilateral: brachycephaly Coronal unilateral: anterior plagiocephaly Lambdoid unilateral: posterior plagiocephaly Metopic [quizlet.com] Psychomotor Retardation - Epilepsy and Craniofacial Dysmorphism Skull morphology ranged from normocephaly to severe craniosynostosis and was accompanied by an array of dysmorphic facial features. [epostersonline.com] Kenny-Caffey Syndrome Type 1 However, cortical thickening of the long bones with medullary stenosis, macrocephaly/normocephaly, normal mentality, cellular immune defects and absence of diploic space in [emro.who.int] Sakati Syndrome This syndrome has to be differentiated from Kenny-Caffey Syndrome which often shows cortical thickening of long bones with medullary stenosis, macrocephaly or normocephaly [alliedacademies.org] However, cortical thickening, medullary stenosis, macrocephaly/normocephaly, normal mentality, cellular immune defects and absence of the diploic space in the skull are additional [emro.who.int] Autosomal Dominant Chondrodysplasia Punctata In addition, the X-linked dominant form of CP is associated with normal intellect, normocephaly, and a good prognosis like the autosomal dominant type, in contrast to the [documents.tips] Teebi-Naguib-Al Awadi Syndrome However, cortical thickening of the long bones with medullary stenosis, macrocephaly/normocephaly, normal mentality, cellular immune defects and absence of diploic space in [emro.who.int] However, cortical thickening, medullary stenosis, macrocephaly/normocephaly, normal mentality, cellular immune defects and absence of the diploic space in the skull are additional [emro.who.int] Chromosome 3q Duplication The physical exam was performed at 6 years of age as part of the family study and showed a global developmental delay, generalized hirsutism, normocephaly, facial dysmorphisms [hindawi.com] Pachygyria-Mental Retardation-Seizures Sub-grouping of this group of pachygyria with normocephaly depending on the predominant lobe of involvement and associated neurological and nonneurological features may need [bioline.org.br] Autosomal Recessive Cutis Laxa Type 2B Generalized, severe cutis laxa, dry skin, sparse hair, normocephaly (OFC: 33 cm −1SD), large anterior fontanel (5 × 6 cm), midfacial hypoplasia, anteverted nares, long philtrum [nature.com] Parietal Foramina with Cleidocranial Dysplasia Fig. 2 A 6 year old with syndromic facies; no exorbitism; but mild midface hypoplasia, anterior open bite, and anterior crossbite with relative normocephaly (cephalic index [plasticsurgerykey.com] Congenital Upper Palpebral Retraction Clinical signs: Mild to moderate short stature,normocephaly, Widow's peak hair, maxillary hypoplasia, broad nasal bridge, anteverted nostrils, long philtrum, broad upper lip [kmle.co.kr] Hypochondroplasia This contradicts a finding of normocephaly in previous studies. [ncbi.nlm.nih.gov] Brachycephaly CI = width ÷ length x 100 or CI = (Left/Right) ÷ (Front/Back) x 100 Scale for Cephalic Index (CI) Normal: 75 – 90 mm Mild: 91 – 93 mm Moderate: 94 – 97 mm Severe: >97 mm Normocephaly [cappskids.org] Glycogen Storage Disease Type 4 There was decreased muscle mass with no peripheral reflexes, normocephaly with a soft open anterior fontanel, normal fundoscopy, patent nares, a normal oral cavity, clear [nature.com] Autosomal Recessive Cutis Laxa Type 1 Generalized, severe cutis laxa, dry skin, sparse hair, normocephaly (OFC: 33 cm −1SD), large anterior fontanel (5 × 6 cm), midfacial hypoplasia, anteverted nares, long philtrum [nature.com] Treacher-Collins Syndrome Microcephaly is virtually universal in childhood, with some adults exhibiting late ‘catch-up’ growth and normocephaly at maturity. [eprints.soton.ac.uk] Microcephaly is virtually universal in childhood, with some adults exhibiting late "catch-up" growth and normocephaly at maturity. [ncbi.nlm.nih.gov] Excludes cases 9 and 12 (with normocephaly) from Gordon et al [2012], both of whom have partial clinical features and intronic changes of uncertain significance. [ncbi.nlm.nih.gov] Macrocephaly Figures 2 and 3 compare each temporal lobe structure by the five group classifications: autism with normocephaly, autism with macrocephaly, controls with normocephaly, controls [ajnr.org] normocephaly, controls with benign macrocephaly, and controls with reading disorders). [ajnr.org] No heterotopias were identified, but, as can be seen, the autistic subjects with normocephaly had the highest frequencies of clinical abnormalities noted. [ajnr.org] Lethal Bone Dysplasia, Holmgren Type GROWTH: [Height]; Mean birth length 42cm, specific growth curve available; Adult height 100-140cm; [Other]; Short-limb dwarfism identifiable at birth HEAD AND NECK: [Head]; Normocephaly [genome.jp] Amish Lethal Microcephaly […] circumference).[3][9] It is reported that in the United States, microcephaly occurs in 2 to 12 babies per 10,000 births.[4] Signs and symptoms[edit] Microcephaly (left) vs. normocephaly [en.wikipedia.org]