We present a patient with features of Ulnar Mammary syndrome (UMS) consisting of bilateral ulnar defects, inverted nipples, short stature with associated growth hormone deficiency, and cryptorchidism. Our patient also had a hypoplastic anterior pituitary and an ectopic posterior pituitary gland, ventricular septal defect (VSD), and cardiac conduction defects consistent with Wolff-Parkinson-White (WPW) syndrome. Although TBX3 is known to be expressed in both the developing heart and the pituitary gland, conduction defects and anatomical pituitary abnormalities have not been previously described in UMS. This may, in part, be due to the fact that these features are not actively sought in individuals with UMS. Because these new findings have important clinical implications, we suggest that clinicians caring for individuals with UMS offer brain imaging, growth hormone testing, and cardiac arrhythmia screening. The diagnosis of UMS was confirmed on mutation analysis of TBX3. The mother of the propositus was also found to carry the same mutation, although she did not show the classical features of UMS. Therefore, our report also supports the variable expressivity of UMS within the same family.
Clinical summaryPallister-Killian Syndrome (PKS) is a rare genetic condition caused by mosaic tetrasomy for the short arm of chromosome 12. Features of PKS include severe mental retardation, seizures, malformations and a characteristic facial appearance. The facial features consist of a prominent forehead, flat occiput, sparse anterior scalp hair, short nose, flat nasal bridge, prominent philtral region, upslanting palpebral fissures and hypertelorism. The facial features coarsen over time. The most common ultrasound findings in prenatally diagnosed cases are hydramnios (54%), diaphragmatic hernia (33%), micromelia (24%) and central nervous system anomalies (19%) (Doray et al., 2002).We report a foetus in whom the diagnosis of PKS was made by array comparative genome hybridization (CGH) on testing a spleen sample. A nonconsanguineous Caucasian couple presented for genetic counselling at 6 weeks into their second pregnancy. They had earlier had a termination at 22 weeks for multiple abnormalities.During that pregnancy, a routine ultrasound scan at 12 weeks had revealed an increased nuchal thickness of 4.4 mm. Chorionic villus sampling (CVS) was carried out which showed an apparently normal female karyotype. The pregnancy continued, but further abnormalities including a left sided diaphragmatic hernia, dilated ventricles and limb shortening were detected on the 20-week anomaly ultrasound scan. Following this scan the couple elected to terminate the pregnancy and consented to a full postmortem. Results of investigationsThe postmortem confirmed the diaphragmatic hernia and identified additional structural abnormalities including a bicornate uterus and annular pancreas. Subtle dysmorphic features, such as brachycephaly, flattened nasal bridge and short terminal phalanges were also noted ( Fig. 1). Neuropathology revealed a developing polymicrogyria and multiple brain infarcts. Fig. 1
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.