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Microcephaly, micrognathia, and bird-headed dwarfism: prenatal diagnosis of a Seckel-like syndrome.
Am J Med Genet. 1987 May; 27(1):183-8.AJ

Abstract

Microcephaly, intrauterine growth retardation, a hellenic nose, and severe micrognathia were diagnosed as a form of bird-headed dwarfism (Seckel-like) syndrome in a female infant. In the subsequent pregnancy, monitored by serial ultrasound examinations, severe growth retardation was established at 17 and 20 weeks of pregnancy. The head circumference was disproportionately small in relation to the abdominal circumference and enabled the diagnosis of microcephaly. There was also extreme micrognathia. The pregnancy was terminated, and the diagnosis of a Seckel-like syndrome of bird-headed dwarfism was confirmed at autopsy of the male fetus. This variant of bird-headed dwarfism has probably autosomal recessive inheritance. Ultrasonic assessment of the facial area together with the measurements of fetal head and abdominal circumference are essential in the early prenatal diagnosis of this syndrome in pregnancies of reliably established duration.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

3300331

Citation

Majoor-Krakauer, D F., et al. "Microcephaly, Micrognathia, and Bird-headed Dwarfism: Prenatal Diagnosis of a Seckel-like Syndrome." American Journal of Medical Genetics, vol. 27, no. 1, 1987, pp. 183-8.
Majoor-Krakauer DF, Wladimiroff JW, Stewart PA, et al. Microcephaly, micrognathia, and bird-headed dwarfism: prenatal diagnosis of a Seckel-like syndrome. Am J Med Genet. 1987;27(1):183-8.
Majoor-Krakauer, D. F., Wladimiroff, J. W., Stewart, P. A., van de Harten, J. J., & Niermeijer, M. F. (1987). Microcephaly, micrognathia, and bird-headed dwarfism: prenatal diagnosis of a Seckel-like syndrome. American Journal of Medical Genetics, 27(1), 183-8.
Majoor-Krakauer DF, et al. Microcephaly, Micrognathia, and Bird-headed Dwarfism: Prenatal Diagnosis of a Seckel-like Syndrome. Am J Med Genet. 1987;27(1):183-8. PubMed PMID: 3300331.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Microcephaly, micrognathia, and bird-headed dwarfism: prenatal diagnosis of a Seckel-like syndrome. AU - Majoor-Krakauer,D F, AU - Wladimiroff,J W, AU - Stewart,P A, AU - van de Harten,J J, AU - Niermeijer,M F, PY - 1987/5/1/pubmed PY - 1987/5/1/medline PY - 1987/5/1/entrez SP - 183 EP - 8 JF - American journal of medical genetics JO - Am. J. Med. Genet. VL - 27 IS - 1 N2 - Microcephaly, intrauterine growth retardation, a hellenic nose, and severe micrognathia were diagnosed as a form of bird-headed dwarfism (Seckel-like) syndrome in a female infant. In the subsequent pregnancy, monitored by serial ultrasound examinations, severe growth retardation was established at 17 and 20 weeks of pregnancy. The head circumference was disproportionately small in relation to the abdominal circumference and enabled the diagnosis of microcephaly. There was also extreme micrognathia. The pregnancy was terminated, and the diagnosis of a Seckel-like syndrome of bird-headed dwarfism was confirmed at autopsy of the male fetus. This variant of bird-headed dwarfism has probably autosomal recessive inheritance. Ultrasonic assessment of the facial area together with the measurements of fetal head and abdominal circumference are essential in the early prenatal diagnosis of this syndrome in pregnancies of reliably established duration. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/3300331/Microcephaly_micrognathia_and_bird_headed_dwarfism:_prenatal_diagnosis_of_a_Seckel_like_syndrome_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1987&volume=27&issue=1&spage=183 DB - PRIME DP - Unbound Medicine ER -