| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| L Pasquier, V Laugel, L Lazaro, H Dollfus, H Journel, P Edery, A Goldenberg, D Martin, D Heron, M Le Merrer, P Rustin, S Odent, A Munnich, A Sarasin, V Cormier-Dair. Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays. Archives of disease in childhood. vol 91. issue 2. 2006-02-06. PMID:16428367. |
the main clinical features are severe dwarfism (<-2 sd), microcephaly (<-3 sd), psychomotor delay, sensorial loss (cataracts, pigmentary retinopathy, and deafness), and cutaneous photosensitivity. |
2006-02-06 |
2023-08-12 |
Not clear |
| Lucina Bobabilla-Morales, Alfredo Corona-Rivera, J Román Corona-Rivera, C Buenrostro, Teresa A García-Cobián, Enrique Corona-Rivera, José María Cantú-Garza, Diana García-Cru. Chromosome instability induced in vitro with mitomycin C in five Seckel syndrome patients. American journal of medical genetics. Part A. vol 123A. issue 2. 2004-07-16. PMID:14598338. |
the patients had low birth weight (mean 1,870 g), short stature (sd = 6.36), microcephaly (ofc, sd = 8.1), typical facial appearance, and multiple articular dislocations. |
2004-07-16 |
2023-08-12 |
Not clear |
| J R Corona-Rivera, E Corona-Rivera, E Romero-Velarde, J Hernández-Rocha, L Bobadilla-Morales, A Corona-River. Report and review of the fetal brain disruption sequence. European journal of pediatrics. vol 160. issue 11. 2002-02-21. PMID:11760023. |
clinical findings present in almost all patients included: severe microcephaly (average occipitofrontal circumference -5.8 sd), overlapping sutures, prominent occipital bone, scalp rugae with normal hair patterning and marked neurological impairment. |
2002-02-21 |
2023-08-12 |
Not clear |
| A Verloes, S Lesenfants, J P Misson, A Galand, L Koulische. Microcephaly, muscular build, rhizomelia, and cataracts: description of a possible recessive syndrome and some comments on the use of electronic databases in syndromology. American journal of medical genetics. vol 68. issue 4. 1997-04-25. PMID:9021021. |
we report on a 7-year-old boy born of consanguineous parents with severe microcephaly (-5 sd) but borderline intelligence, juvenile cataract, muscular build, rhizomelic shortness of limbs predominantly of femora, advanced bone age, and micropenis. |
1997-04-25 |
2023-08-12 |
Not clear |
| F A Chervenak, J Rosenberg, R C Brightman, U Chitkara, P Jeant. A prospective study of the accuracy of ultrasound in predicting fetal microcephaly. Obstetrics and gynecology. vol 69. issue 6. 1987-06-19. PMID:3554067. |
an occipitofrontal diameter larger than the predicted mean -2 standard deviations (sd), a head perimeter larger than the predicted mean -2 sd, and a head perimeter/abdominal perimeter larger than the predicted mean -1 sd were found to exclude fetal microcephaly. |
1987-06-19 |
2023-08-11 |
Not clear |
| F A Chervenak, J Rosenberg, R C Brightman, U Chitkara, P Jeant. A prospective study of the accuracy of ultrasound in predicting fetal microcephaly. Obstetrics and gynecology. vol 69. issue 6. 1987-06-19. PMID:3554067. |
an occipitofrontal diameter smaller than the predicted mean -4 sd, a head perimeter smaller than the predicted mean -5 sd, a head perimeter/abdominal perimeter smaller than the predicted mean -3 sd, and a femur length/head perimeter larger than the predicted mean +3 sd were found to cause no errors in the diagnosis of microcephaly. |
1987-06-19 |
2023-08-11 |
Not clear |
| K Ahlfors, S A Ivarsson, I Bjerr. Microcephaly and congenital cytomegalovirus infection: a combined prospective and retrospective study of a Swedish infant population. Pediatrics. vol 78. issue 6. 1987-01-05. PMID:3024098. |
none of 56 infants shown to be cytomegalovirus excreters (congenitally infected) and followed up were born with or developed microcephaly (head circumference smaller than 3 sd below the mean for age and sex) during the first 1 to 7 years of life. |
1987-01-05 |
2023-08-11 |
Not clear |
| B G Koussef. Cohen syndrome: further delineation and inheritance. American journal of medical genetics. vol 9. issue 1. 1981-08-10. PMID:7246618. |
all had moderate mental retardation, microcephaly, hypotonia, and narrow hands and feet with elongated fingers and toes; 3 were short of stature (2.0-3.5 sd below the mean) with weight between 10th and 50th centile and truncal obesity. |
1981-08-10 |
2023-08-12 |
Not clear |