Male siblings with dyserythropoiesis, microcephaly and intrauterine growth retardation

K. Okajima, T. Ito, A. Wakita, Y. Suzuki, M. Nagahama, M. Shamoto, M. Eguchi, Y. Wada

研究成果: Article査読

2 被引用数 (Scopus)

抄録

Male siblings with intrauterine growth retardation, hydrops, mild liver dysfunction, chronic diarrhoea, failure to thrive and microcephaly are reported. In both patients, the intrauterine growth retardation was detected in the second trimester of pregnancy. Relatively severe early onset neonatal jaundice, microcytosis, anisocytosis and abnormal iron metabolism were also seen. Bone marrow examination in the second sibling showed marked ringed sideroblasts and multilobulated erythroblasts in late developmental stages. The brain was very small with enlarged cerebrospinal fluid space, a reduced number of gyri and a thin cortex. The clinical and laboratory findings in these patients appear to be unique.

本文言語English
ページ(範囲)107-111
ページ数5
ジャーナルClinical Dysmorphology
11
2
DOI
出版ステータスPublished - 01-01-2002
外部発表はい

All Science Journal Classification (ASJC) codes

  • 小児科学、周産期医学および子どもの健康
  • 解剖学
  • 病理学および法医学
  • 遺伝学(臨床)

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