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Macrodystrophia lipomatosa: Clinical and radiological insights into localized gigantism.
Radiol Case Rep
February 2025
Department of Radiodiagnosis, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Sawangi (Meghe), Wardha, Maharashtra, India, 442001.
A rare type of localized gigantism known as macrodystrophia lipomatosa is characterized by a disproportionate increase in fibroadipose tissues and a gradual overgrowth of all mesenchymal elements. The distribution in the lower extremities' plantar nerves and the upper extremity's median nerve is most commonly observed. This abnormality is congenital and typically manifests at birth or during the neonatal stage.
View Article and Find Full Text PDFSimpson-Golabi-Behmel syndrome.
Am J Med Genet C Semin Med Genet
December 2024
Institute of Genomic Medicine, Catholic University School of Medicine, Rome, Italy.
The Simpson-Golabi-Behmel syndrome (SGBS; OMIM 312870) is an overgrowth/multiple congenital anomalies/dysplasia condition, inherited as an X-linked semi-dominant trait, with variable expressivity in males and reduced penetrance and expressivity in females. The clinical spectrum is broad, ranging from mild manifestations in both males and females to multiple malformations and neonatal death in the more severely affected cases. An increased risk of neoplasia is reported, requiring periodical surveillance.
View Article and Find Full Text PDFSimpson-Golabi-Behmel syndrome type 1 with normal birth parameters.
BMJ Case Rep
March 2024
The University of Hong Kong Li Ka Shing Faculty of Medicine, Hong Kong, Hong Kong.
A newborn baby born at 34 weeks and 5 days gestation was admitted for prematurity, dysmorphic features and congenital heart defects. Antenatal scan at 21 weeks showed a large-for-gestational-age foetus with a large abdominal circumference and liver, ventricular septal defect, right prominent renal pelvis and echogenic bowel. Antenatal genetic tests for overgrowth syndromes were negative.
View Article and Find Full Text PDFA giant armoured skink from Australia expands lizard morphospace and the scope of the Pleistocene extinctions.
Proc Biol Sci
June 2023
College of Science and Engineering, Flinders University, Bedford Park, Australia.
There are more species of lizards and snakes (squamates) alive today than any other order of land vertebrates, yet their fossil record has been poorly documented compared with other groups. Here, we describe a gigantic Pleistocene skink from Australia based on extensive material that includes much of the skull and postcranial skeleton, and spans ontogenetic stages from neonate to adult. substantially expands the known ecomorphological diversity of squamates.
View Article and Find Full Text PDFType II Pfieffer misdiagnosed as Crouzon syndrome with additional features of supernumerary teeth and localized symmetrical gigantism: a case report.
J Med Case Rep
November 2022
Neonatal Unit, Muhimbili National Hospital, P.O. Box 65001, Dar-es-Salaam, Tanzania.
Background: Pfieffer syndrome is among the syndromes seen in the recognized variant of the FGFR2 gene. There are several conditions related to this variant and a very closely related condition is Crouzon syndrome. This case is important to report because the neonate was a delayed referral from another region, without clear counseling and information on the gravity of situation.
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