Developmental and Genetic Considerations in a Neonate With Pectus Excavatum, Bilateral Hydroceles, Indirect Inguinal Hernia, and Type 2 Ileal Atresia

This case study describes a combination of congenital anomalies observed in a full-term male neonate, including pectus excavatum, bilateral hydroceles, an indirect inguinal hernia, and type 2 ileal atresia. The neonate, delivered by cesarean section at 39 weeks and one day, presented with pectus excavatum and bilateral hydroceles, confirmed both prenatally and postnatally. Postpartum, the neonate experienced feeding difficulties and failed to pass meconium within 24 hours of birth. Diagnostic imaging revealed dilated bowel loops consistent with intestinal obstruction, necessitating surgical intervention for ileal atresia. At a four-month follow-up, the patient was found to have developed an inguinal hernia. This constellation of anomalies has not been previously documented, highlighting the importance of comprehensive evaluation, multidisciplinary care, and patient counseling in such cases. Furthermore, this report underscores the need for further investigation into potential genetic syndromes, developmental disruptions in mesodermal-derived structures, or in utero vascular insults that may underlie the concurrent presentation of these anomalies.

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Publication Details

Journal
Cureus
Published
2025-02-01
DOI
https://doi.org/10.7759/cureus.78350
Primary Topic
Pectus Deformity Diagnosis and Treatment
Type
article
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article

Developmental and Genetic Considerations in a Neonate With Pectus Excavatum, Bilateral Hydroceles, Indirect Inguinal Hernia, and Type 2 Ileal Atresia

Daniela Avila‐Smirnow, Natalie Nagib, Abby L Denham, Pedro Montanez
Cureus
Pectus Deformity Diagnosis and Treatment
article

Developmental and Genetic Considerations in a Neonate With Pectus Excavatum, Bilateral Hydroceles, Indirect Inguinal Hernia, and Type 2 Ileal Atresia

Daniela Avila‐Smirnow, Natalie Nagib, Abby L Denham, Pedro Montanez
article en

Abstract

This case study describes a combination of congenital anomalies observed in a full-term male neonate, including pectus excavatum, bilateral hydroceles, an indirect inguinal hernia, and type 2 ileal atresia. The neonate, delivered by cesarean section at 39 weeks and one day, presented with pectus excavatum and bilateral hydroceles, confirmed both prenatally and postnatally. Postpartum, the neonate experienced feeding difficulties and failed to pass meconium within 24 hours of birth. Diagnostic imaging revealed dilated bowel loops consistent with intestinal obstruction, necessitating surgical intervention for ileal atresia. At a four-month follow-up, the patient was found to have developed an inguinal hernia. This constellation of anomalies has not been previously documented, highlighting the importance of comprehensive evaluation, multidisciplinary care, and patient counseling in such cases. Furthermore, this report underscores the need for further investigation into potential genetic syndromes, developmental disruptions in mesodermal-derived structures, or in utero vascular insults that may underlie the concurrent presentation of these anomalies.

CureusVol. 17(2)
Lake Erie College of Osteopathic Medicine (US), AdventHealth Sebring (US)
Zero hunger
Openalex Percentile: Top 97%
Pectus Deformity Diagnosis and Treatment
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Developmental and Genetic Considerations in a Neonate With Pectus Excavatum, Bilateral Hydroceles, Indirect Inguinal Hernia, and Type 2 Ileal Atresia — Daniela Avila‐Smirnow, Natalie Nagib, et al. · Cureus (2025) | TGRS Research Map | TGRS