Short rib polydactyly syndrome (SRPS) is a very rare congenital autosomal recessive inherited disease, classified into four subtypes. It has distinct imaging findings on prenatal sonography (US) and ancillary findings on both pre- and postnatal examinations may help classify individual cases into one of four subtypes. We report the US findings in a case of SRPS type IV (Beemer-Langer dysplasia) in a male fetus with multiple congenital anomalies, including cystic hygroma. The postnatal ultrasound, radiographic, and postmortem examinations helped to classify the SRPS as type IV. We believe this is the first documented case associating cystic hygroma and polydactyly.
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http://dx.doi.org/10.1002/jcu.20603 | DOI Listing |
BMC Pediatr
January 2025
Department of Pediatrics, Huazhong University of Science and Technology Union Shenzhen Hospital, Shenzhen, China.
Background: Generalized lymphatic anomaly (GLA) is a rare congenital lymphatic malformation (LM) characterized by multiple infiltrating lymphangiomas in various tissues. Owing to its rarity, information on this disease is obtained mainly through case reports, leading to delayed diagnosis. In this study, we reported a case of generalized lymphatic anomaly in a pediatric patient manifesting as hemorrhagic pleural effusion.
View Article and Find Full Text PDFBJR Case Rep
January 2025
Department of Radiodiagnosis and Imaging, B.P. Koirala Institute of Health Sciences, Dharan, 56700, Nepal.
Conjoined twins, or Siamese twins as they are commonly called, are a rare and extreme form of monochorionic twinning. Imaging plays an essential role in the diagnosis and follow-up of conjoined twins. While ultrasound is often the screening modality of choice, MRI is carried out for better anatomical delineation and further characterization as and when necessary.
View Article and Find Full Text PDFCureus
November 2024
Radiodiagnosis, MNR Medical College and Hospital, Sangareddy, IND.
Lymphangiomas are localized multi-cystic malformations of the lymphatic and vascular system, primarily affecting the head and neck regions in children. Orbital lymphangiomas are not considered hamartomas because the orbit does not commonly display lymphatic vessels. In this case report, we describe a male patient who was 15 years old and presented to our medical facility with the primary complaints of having a bulging left eye, sudden chemosis of the lower conjunctiva, and pain in the left eye.
View Article and Find Full Text PDFInt J Surg Case Rep
December 2024
Retroperitoneal, Pelvic and Adrenal Unit, Department of General Surgery, British Hospital of Buenos Aires, Buenos Aires, Argentina. Electronic address:
Introduction And Importance: Lymphangiomas (LG) are a rare type of lesion of the lymphatic vessels. They predominantly occur in young patients, mostly female. Adrenal location represents 0.
View Article and Find Full Text PDFJ Indian Assoc Pediatr Surg
November 2024
Neonatal and Pediatric Surgeon, Amardeep Multispecialty Children Hospital and Research Centre, Ahmedabad, Gujarat, India.
Postoperative chylous leak is a rare but serious complication of any head-and-neck surgery. It can lead to metabolic imbalance, prolonged wound healing, wound dehiscence, and hospitalization. We present the case of a 9-month-old girl operated for a left cervical cystic hygroma who had a chylous leak requiring surgical management.
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