| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| L Sztriha, A Dawodu, A Gururaj, J G Johanse. Microcephaly associated with abnormal gyral pattern. Neuropediatrics. vol 35. issue 6. 2005-03-10. PMID:15627942. |
the microcephaly was associated with polymicrogyria and leukoencephalopathy in two patients, with cortical dysplasia and hypogenesis of the corpus callosum in one patient, with agyria-pachygyria with callosal and pontocerebellar dysplasia in one patient, and a simplified gyral pattern with severe cerebellar hypoplasia in one case. |
2005-03-10 |
2023-08-12 |
Not clear |
| Edward P Riley, Christie L McGee, Elizabeth R Sowel. Teratogenic effects of alcohol: a decade of brain imaging. American journal of medical genetics. Part C, Seminars in medical genetics. vol 127C. issue 1. 2004-11-24. PMID:15095470. |
in addition to microcephaly, these studies indicated structural abnormalities in various regions of the brain, including the cerebellum, corpus callosum, and the basal ganglia. |
2004-11-24 |
2023-08-12 |
human |
| Nacim Louhichi, Chahnez Triki, Susana Quijano-Roy, Pascale Richard, Samira Makri, Mériem Méziou, Brigitte Estournet, Slah Mrad, Norma B Romero, Hammadi Ayadi, Pascale Guicheney, Faiza Fakhfak. New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families. Neurogenetics. vol 5. issue 1. 2004-05-17. PMID:14652796. |
they all had mental retardation, microcephaly, cerebellar cysts, and hypoplasia of the vermis. |
2004-05-17 |
2023-08-12 |
Not clear |
| Yves Sznajer, Clarisse Baumann, Albert David, Hubert Journel, Didier Lacombe, Yves Perel, Pascale Blouin, Jean-François Segura, Jean-Pierre Cezard, Michel Peuchmaur, Tomy Vulliamy, Inderjeet Dokal, Alain Verloe. Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome). European journal of pediatrics. vol 162. issue 12. 2004-04-01. PMID:14648217. |
this x-linked recessive, progressive, multisystemic disorder reported so far in 12 pedigrees is characterised by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, mental retardation, progressive combined immune deficiency and aplastic anaemia. |
2004-04-01 |
2023-08-12 |
Not clear |
| Mitsuhiro Kato, Soma Das, Kristin Petras, Kunio Kitamura, Ken-ichirou Morohashi, Diane N Abuelo, Mason Barr, Dominique Bonneau, Angela F Brady, Nancy J Carpenter, Karen L Cipero, Francesco Frisone, Takayuki Fukuda, Renzo Guerrini, Eri Iida, Masayuki Itoh, Amy Feldman Lewanda, Yukiko Nanba, Akira Oka, Virginia K Proud, Pascale Saugier-Veber, Susan L Schelley, Angelo Selicorni, Rachel Shaner, Margherita Silengo, Fiona Stewart, Noriyuki Sugiyama, Jun Toyama, Annick Toutain, Ana Lía Vargas, Masako Yanazawa, Elaine H Zackai, William B Dobyn. Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. Human mutation. vol 23. issue 2. 2004-03-08. PMID:14722918. |
a nonconservative missense mutation near the c-terminal aristaless domain caused unusually severe xlag with microcephaly and mild cerebellar hypoplasia. |
2004-03-08 |
2023-08-12 |
human |
| Adriana Piram, Daniela Ortolan, Luis Cesar Peres, João Monteiro Pina-Neto, Mariluce Riegel, Albert Schinze. Newborn with malformations and a combined duplication of 9pter-q22 and 16q22-qter resulting from unbalanced segregation of a complex maternal translocation. American journal of medical genetics. Part A. vol 120A. issue 2. 2004-02-20. PMID:12833408. |
this newborn had intrauterine growth retardation and microcephaly, the characteristic recognizable pattern of trisomy 9p, cerebellar hypoplasia, a porencephalic cyst in the parieto-occipital region, and rocker-bottom feet. |
2004-02-20 |
2023-08-12 |
Not clear |
| ANDRE-THOMAS, J GRUNE. [Case of microcephaly with complex malformations: arhinencephalia, agenesis of the corpus callosum and fornix, heterotopia, abnormalities of the cerebellum, of the brain stem and the spinal cord, vasculo-mesenchymal malformations]. Bulletins et memoires de la Societe medicale des hopitaux de Paris. vol 52. issue 1. 2004-02-15. PMID:14838411. |
[case of microcephaly with complex malformations: arhinencephalia, agenesis of the corpus callosum and fornix, heterotopia, abnormalities of the cerebellum, of the brain stem and the spinal cord, vasculo-mesenchymal malformations]. |
2004-02-15 |
2023-08-12 |
Not clear |
| Dinesh Rakheja, Golder N Wilson, Beverly B Roger. Biochemical abnormality associated with Smith-Lemli-Opitz syndrome in an infant with features of Rutledge multiple congenital anomaly syndrome confirms that the latter is a variant of the former. Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society. vol 6. issue 3. 2003-12-29. PMID:12717589. |
she had microcephaly with hypoplastic cerebral frontal lobes and cerebellum, agenesis of the splenium of corpus callosum, abnormal facies including hypertelorism with bilateral inner epicanthal folds, a broad nasal bridge with slightly anteverted nares and patent choanae, low set ears and complex conchal formation, high-arched palate and thick maxillary alveolar ridges, and micrognathia. |
2003-12-29 |
2023-08-12 |
Not clear |
| Evangeline Wassmer, Paul Davies, William P Whitehouse, Stuart H Gree. Clinical spectrum associated with cerebellar hypoplasia. Pediatric neurology. vol 28. issue 5. 2003-09-17. PMID:12878295. |
of the 45 children with cerebellar hypoplasia, 39 exhibited developmental delay; 24, speech delay; 25, seizures; nine, microcephaly; 22, hypotonia; 22, ataxia and impaired coordination; four, abnormal movements (tremor or titubation); 13, hypertonia; eight, autistic features; and 18, ocular signs (nystagmus, strabismus, and abnormal ocular movements). |
2003-09-17 |
2023-08-12 |
Not clear |
| Evangeline Wassmer, Paul Davies, William P Whitehouse, Stuart H Gree. Clinical spectrum associated with cerebellar hypoplasia. Pediatric neurology. vol 28. issue 5. 2003-09-17. PMID:12878295. |
statistically significant clinical features of children with cerebellar hypoplasia compared with those without were development and speech delay, microcephaly, abnormal movements, ataxia and impaired coordination, autistic features, hypotonia, and ocular signs. |
2003-09-17 |
2023-08-12 |
Not clear |
| Vorasuk Shotelersuk, Tayard Desudchit, Nitaya Suwanwel. Postnatal growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy. American journal of medical genetics. Part A. vol 116A. issue 2. 2003-05-09. PMID:12494436. |
postnatal growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy. |
2003-05-09 |
2023-08-12 |
Not clear |
| Vorasuk Shotelersuk, Tayard Desudchit, Nitaya Suwanwel. Postnatal growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy. American journal of medical genetics. Part A. vol 116A. issue 2. 2003-05-09. PMID:12494436. |
we describe two sibs with postnatal-onset growth deficiency, microcephaly, cataract, prominent supraorbital ridge, large joint contractures, severe osteoporosis, cortical dysplasia, cerebellar atrophy, and mental retardation. |
2003-05-09 |
2023-08-12 |
Not clear |
| Sonya Rae Arnold, Diane Debich-Spicer D, John M Opitz, Enid Gilbert-Barnes. Documentation of anomalies not previously described in Fryns syndrome. American journal of medical genetics. Part A. vol 116A. issue 2. 2003-05-09. PMID:12494439. |
we report on a case of fryns syndrome with microcephaly, multiple facial anomalies, hypoplasia of distal phalanges, diaphragmatic defect with a thin, translucent diaphragm, microphthalmia (right), anophthalmia (left), and multiple midline developmental defects including gastroschisis, central nervous system defects including left arrhinencephaly and cerebellar hypoplasia, midline cleft of the upper lip, alveolar ridge and maxillary bone, and cleft nose with bilateral choanal atresia. |
2003-05-09 |
2023-08-12 |
Not clear |
| Takashi Shiihara, Mitsuhiro Kato, Toshiyuki Kimura, Akira Matsunaga, Kensuke Joh, Kiyoshi Hayasak. Microcephaly, cerebellar atrophy, and focal segmental glomerulosclerosis in two brothers: a possible mild form of Galloway-Mowat syndrome. Journal of child neurology. vol 18. issue 2. 2003-05-02. PMID:12693786. |
microcephaly, cerebellar atrophy, and focal segmental glomerulosclerosis in two brothers: a possible mild form of galloway-mowat syndrome. |
2003-05-02 |
2023-08-12 |
Not clear |
| Takashi Shiihara, Mitsuhiro Kato, Toshiyuki Kimura, Akira Matsunaga, Kensuke Joh, Kiyoshi Hayasak. Microcephaly, cerebellar atrophy, and focal segmental glomerulosclerosis in two brothers: a possible mild form of Galloway-Mowat syndrome. Journal of child neurology. vol 18. issue 2. 2003-05-02. PMID:12693786. |
we report two brothers with microcephaly, cerebellar atrophy, and focal segmental glomerulosclerosis. |
2003-05-02 |
2023-08-12 |
Not clear |
| V Prietsch, V Peters, R Hackler, R Jakobi, B Assmann, J Fang, C Körner, A Helwig-Rolig, J R Schaefer, G F Hoffman. A new case of CDG-x with stereotyped dystonic hand movements and optic atrophy. Journal of inherited metabolic disease. vol 25. issue 2. 2002-12-30. PMID:12118527. |
other symptoms that are often found in patients with cdg were not present, such as seizures, microcephaly, cerebellar hypoplasia, dysmorphic features, hepatointestinal disease, coagulopathy or multiorgan involvement. |
2002-12-30 |
2023-08-12 |
Not clear |
| Dana Hiyasat, Munir A Dehyyat, Saleh Ajlouni, Ammar F Mubaidin, Maha Till, Azmi Hadidi, Hatem El-Shanti, Kamel M Ajloun. Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature: "D-CHRAMPS syndrome". European journal of pediatrics. vol 161. issue 3. 2002-10-23. PMID:11998919. |
cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature: "d-chramps syndrome". |
2002-10-23 |
2023-08-12 |
Not clear |
| John M Opitz, Enid Gilbert-Barness, Jeanie Ackerman, Amy Lowichi. Cholesterol and development: the RSH ("Smith-Lemli-Opitz") syndrome and related conditions. Pediatric pathology & molecular medicine. vol 21. issue 2. 2002-10-11. PMID:11942534. |
pediatric pathology has learned that when this endogenous ability fails during embryogenesis on the basis of mutations in the postsqualene biosynthesis of cholesterol, a startling variety of developmental pathology may present itself ranging from lethal forms of "idiopathic" hydrops, microcephaly with cerebral dysgenesis and dysmyelinization, agenesis of corpus callosum, cerebellar vermis dysgenesis, cataracts, cleft palate, many different forms of congenital heart defect, pyloric stenosis and/or hirschsprung dysganglionosis, adrenal (cortical) insufficiency, cholestatic liver disease, limb malformations, and genital ambiguity in genetic males. |
2002-10-11 |
2023-08-12 |
Not clear |
| J Avegno, A H Tilton, Y Lacassi. Provisionally unique autosomal recessive syndrome due to significant consanguinity. American journal of medical genetics. vol 102. issue 4. 2001-10-25. PMID:11503158. |
major findings include: severe psychomotor and mental retardation, microcephaly with cerebral dysgenesis and cerebellar hypoplasia, early hypotonia and late hypertonia, short stature, early swallowing incoordination with aspiration pneumonias, distinctive face with striking hypertelorism, hypospadias, cryptorchidism, overlapping fingers, and rocker-bottom feet. |
2001-10-25 |
2023-08-12 |
Not clear |
| E Gilbert-Barness, D Debich-Spicer, M M Cohen, J M Opit. Evidence for the "midline" hypothesis in associated defects of laterality formation and multiple midline anomalies. American journal of medical genetics. vol 101. issue 4. 2001-08-23. PMID:11471162. |
additional multiple midline defects included bronchoesophageal fistula, duodenal atresia, absence of posterior leaf of diaphragm; horseshoe adrenal gland; microcephaly; dandy-walker anomaly with agenesis of cerebellar vermis and occipital encephalocele; holoprosencephaly with orbital encephalocele, midline defect of the orbital plate of the skull, bilateral anophthalmia, double proboscis with bilateral choanal atresia, midline upper lip and palatal cleft; single-lobed thyroid; hypoplastic external genitalia with midline cleft of scrotum, long tapering fingers, and defects of the cranium at the sites of orbital and occipital encephaloceles. |
2001-08-23 |
2023-08-12 |
Not clear |