Mitomycin C-induced chromosome damage was increased and comparable to that seen in Fanconi anemia. Woods et al. (1995) proposed that this infant suffered from a distinct chromosome breakage syndrome. [omim.org]

Werner Cambridge University Press, 18 ago. 2005 - 452 páginas Neonatal hematology : a historical overview -- Disorders of the fetomaternal unit -- Erythropoiesis, red cells, and the approach to anemia -- Anemia of prematurity and indications for erythropoietin [books.google.es]

A hereditary autosomal recessive disorder characterized by megaloblastic anemia, diabetes mellitus, and sensorineural deafness. Onset is typically between infancy and adolescence, but all of the cardinal findings are often not present initially. [ncbi.nlm.nih.gov]

Wallis Zieff Goldblatt syndrome Wandering spleen Warburg Sjo Fledelius syndrome Warburg Thomsen syndrome Warburton Anyane Yeboa syndrome Warfarin antenatal infection Warkany syndrome Warman Mulliken Hayward syndrome Warm-reacting-antibody hemolytic anemia [bioreference.net]

[…] spleen War–Wat Warburg–Sjo–Fledelius syndrome; see Micro syndrome Warburg–Thomsen syndrome Warburton–Anyane–Yeboa syndrome Warfarin antenatal infection Warfarin necrosis Warkany syndrome Warman–Mulliken–Hayward syndrome Warm-reacting-antibody hemolytic anemia [medbox.iiab.me]

Abstract We report an infant with pre- and postnatal microcephaly and growth retardation, a distinctive face, and developmental delay. The initial diagnosis was of Seckel syndrome. He became pancytopenic at 16 months and died soon after. [ncbi.nlm.nih.gov]

600546 INTRAUTERINE GROWTH RETARDATION WITH INCREASED MITOMYCIN C SENSITIVITY ORPHA: 808; TEXT Woods et al. (1995) reported the case of an infant with pre- and postnatal microcephaly and growth retardation, a distinctive face, and developmental delay. [omim.org]

The clinical phenotype includes typical facial features, microcephaly, growth retardation, developmental delay and major congenital malformations. [tmj.ro]

DELAY, AND TOOTH ENAMEL DEFECT SYNDROME hypotonia-cystinuria syndrome Hypotrichosis-Lymphedema-Telangiectasia Syndrome Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome Ichthyosis Cheek Eyebrow Syndrome Ichthyosis Follicularis [rgd.mcw.edu]

Gaucher disease 5. Fucosidosis 6. Sialidosis type II 3. Diseases primarily affecting whitematter 1. Galactosemia 2. Phenylketonuria 3. Maple syrup urine disease (intermediate) 4. Homocystinuria 5. Urea cycle defects 6. Canavan disease 7. [checkorphan.org]

Phenylketonuria 3. Maple syrup urine disease (intermediate) 4. Homocystinuria 5. Urea cycle defects 6. Canavan disease 7. Alexander disease 8. Globoid leukodystrophy (Krabbe disease) 9. Pelizaeus-Merzbacher disease 10. [checkorphan.org]

[…] retardation short stature equinovarus GANT heart and skeletal defects PKU2 SBMA Gastrointestinal autonomic Mental retardation short stature Bulbospinal muscular atrophy X- Crane-Heise syndrome agenesis of clavicles and cervical nerve tumor hypertelorism Phenylketonuria [yumpu.com]

Hypoxic-ischemic encephalopathy 6. Intracranial hemorrhage 7. Infection 8. Brain tumor 9. Cerebrovascular disorders 10. Psychologic disturbances 11. Unknown 4. Progressive global delay 1. Neurocutaneousdisorders 1. Tuberoussclerosis 2. [checkorphan.org]

Weissenbacher–Zweymuller syndrome Welander distal myopathy, Swedish type Weleber–Hecht–Bigley syndrome Wellesley–Carmen–French syndrome Wells–Jankovic syndrome Wells syndrome Werdnig–Hoffmann disease Werner's syndrome Wernicke–Korsakoff syndrome Wernicke's encephalopathy [medbox.iiab.me]

16Q24.3 Microdeletion Syndrome 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 3MC syndrome 47, XYY Syndrome 49,XXXXX Syndrome 5-Nucleotidase Syndrome 7p2 Monosomy Syndrome Aagenaes syndrome Aarskog syndrome Aase Smith [rgd.mcw.edu]

Ataxia with lactic acidosis 2 Aprosencephaly syndrome Ectrodactyly with aplasia of long mental retardation hypogonadism Leigh syndrome due to pyruvate Aprosencephaly-atelencephaly bones Cystathioninuria Cataract carboxylase deficiency Leigh necrotizing encephalopathy [yumpu.com]

Intracranial hemorrhage 7. Infection 8. Brain tumor 9. Cerebrovascular disorders 10. Psychologic disturbances 11. Unknown 4. Progressive global delay 1. Neurocutaneousdisorders 1. Tuberoussclerosis 2. Neurofibromatosis 2. [checkorphan.org]

His bone marrow was of normal cellularity but had an infiltration of small lymphocytes. Increased spontaneous chromosome breakage was seen in blood and fibroblasts. [omim.org]

His bone marrow was of normal cellularity but had a small lymphocyte infiltration. Increased spontaneous chromosome breakage was seen in blood and fibroblasts. [ncbi.nlm.nih.gov]