Holoprosencephaly in 19 cases

Objective & Hypothesis:Objectives: To determine the incidence of holoprosencephaly and associated abnormalities among consecutive perinatal and fetal autopsies.

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Key Findings & Data:Study Design: A total of 436 perinatal or fetal autopsies carried out between 1994 and 2000 were retrospectively evaluated.

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Conclusion & Impact:Trisomy 13 was detected in three cases.

🔬Design:Research Article

📍Scope:2000 Verileri

⚙️Variables:Holoprosensefali · Anomaliler · çoklu

Abstract

Objectives: To determine the incidence of holoprosencephaly and associated abnormalities among consecutive perinatal and fetal autopsies. Study Design: A total of 436 perinatal or fetal autopsies carried out between 1994 and 2000 were retrospectively evaluated. Results and Conclusion: Holoprosencephaly was detected in 19 cases (12 males, 7 females; 4%). Fourteen cases (75%) had alobar, two cases had semilobar (10%), and three cases (15%) had lobar holoprosencephaly. Agenesis of the corpus callosum and bulbus olfactorius was detected in all alobar cases. Orofacial anomalies were present in 14 cases (%75), the most common types being cleft lip/palate and cyclopia. Genitourinary and skeletal anomalies were seen in nine ((47%) and eight (42%) cases, respectively. Trisomy 13 was detected in three cases.

Özet

Amaç: Perinatal ve fetal otopsi olguları içinde holoprosensefali olgularının sıklığını eşlik eden diğer patolojiler ile birlikte değerlendirmek. Çalışma Planı: 1994-2000 yılları arasında otopsi yapılan ardışık 436 perinatal ve fetal olgu retrospektif olarak incelendi. Bulgular ve Sonuç: On dokuz olguda (12 erkek, 7 kız; %4) holoprosensefali saptandı. Bu olguların 14'ü (%75) alobar, ikisi (%10) semilobar, üçü (%15) lobar tipte idi. Alobar olguların tümünde olfaktor bulbus yokluğu ve korpus kallosum agenezisi saptandı. On dört olguda (%75) orofasyal anomaliler görüldü; en sık anomali yarık damak/dudak ve siklopi idi. Dokuz olguda (%47) genitoüriner, sekiz olguda (%42) iskelet anomalilerine rastlandı. Kromozom analizi yapılan üç olguda trizomi 13 saptandı.

Keywords

Holoprosensefali Anomaliler çoklu Otopsi Geriyedönük çalışma Embriyoloji Holoprosencephaly Abnormalities Multiple Autopsy Retrospective Studies Embryology

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Cite This Article

ATILMIŞ, Ü. Ü., GÜNEŞ, P., AKER, V. F., KARADAĞ, N. (2002). Holoprosencephaly in 19 cases. PTT Hastanesi Tıp Dergisi, Cilt: 24 - Sayı: 1, 35–38. https://ajindex.com/articles/340418

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