OBJECTIVE: To determine the relative frequency of causes of lung hypoplasia (LH) and its associated congenital malformations among perinatal deaths. METHODS: 850 medical reports of perinatal autopsies, in a 25-year period, assessed for LH as a cause of death. RESULTS: LH found in 96 (11.3%) cases, 89 (92.7%) were associated with major congenital malformation (secondary type) and primary type was seen in 7 cases (7.3%). Fourteen cases were associated with multiple congenital anomalies. 32 cases (33.3%) with Genito-urinary anomalies were the most common associated major malformations, followed by 19 cases (19.8%) of diaphragmatic impairment, 15 cases (15.6%) of musculoskeletal abnormalities and 11 cases (11.4%) of kidney agenesis. The most common musculoskletal abnormality was thanatophoric dwarfism in 10 cases (10.4%). Meckle-Gruber syndrome with 7 affected fetuses (7.3%) was the most common malformation syndrome associated with LH. CONCLUSION: More than ninety percent of LH was secondary to pathology outside the respiratory tract. Renal agenesis is the most common association observed in LH, followed by diaphragmatic hernia and thanatophoric dysplasia.
OBJECTIVE: To determine the relative frequency of causes of lung hypoplasia (LH) and its associated congenital malformations among perinatal deaths. METHODS: 850 medical reports of perinatal autopsies, in a 25-year period, assessed for LH as a cause of death. RESULTS:LH found in 96 (11.3%) cases, 89 (92.7%) were associated with major congenital malformation (secondary type) and primary type was seen in 7 cases (7.3%). Fourteen cases were associated with multiple congenital anomalies. 32 cases (33.3%) with Genito-urinary anomalies were the most common associated major malformations, followed by 19 cases (19.8%) of diaphragmatic impairment, 15 cases (15.6%) of musculoskeletal abnormalities and 11 cases (11.4%) of kidney agenesis. The most common musculoskletal abnormality was thanatophoric dwarfism in 10 cases (10.4%). Meckle-Gruber syndrome with 7 affected fetuses (7.3%) was the most common malformation syndrome associated with LH. CONCLUSION: More than ninety percent of LH was secondary to pathology outside the respiratory tract. Renal agenesis is the most common association observed in LH, followed by diaphragmatic hernia and thanatophoric dysplasia.
Authors: Jacqueline A M Laudy; Dick Tibboel; Simon G F Robben; Ronald R de Krijger; Maria A J de Ridder; Juriy W Wladimiroff Journal: Pediatrics Date: 2002-02 Impact factor: 7.124
Authors: Ingrid Anne Mandy Schierz; Mario Giuffrè; Ettore Piro; Maria Clara Leone; Giuseppa Pinello; Giovanni Corsello Journal: Ital J Pediatr Date: 2018-08-22 Impact factor: 2.638