We report on two unrelated Amish families with familial occurrence of unusual lymphatic anomalies. The first family had two children, a boy and a girl, with congenital chylothorax both of whom died as a consequence of this condition (one prenatally and one neonatally). The second family has two brothers with isolated cystic hygroma. Neither family has any other individuals affected with any type of lymphatic anomaly. Differential diagnosis and presumed autosomal recessive inheritance pattern will be discussed. Familial cystic hygroma not associated with hydrops fetalis and neonatal death has not been reported previously.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/(sici)1096-8628(19971219)73:3<286::aid-ajmg11>3.0.co;2-f | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Exon location of glycine substitutions impacts kidney survival in autosomal dominant Alport Syndrome.
Nephrol Dial Transplant
January 2025
Department of Nephrology, Kidney Transplantation and Dialysis, CHU Lille, University of Lille, Lille, France.
Background And Hypothesis: Unlike X-linked or autosomal recessive Alport Syndrome, no clear genotype/phenotype correlation has yet been demonstrated in patients carrying a single variant of COL4A3 or COL4A4.
Methods: We carried out a multicenter retrospective study to assess the risk factors involved in renal survival in patients presenting a single pathogenic variant on COL4A3 or COL4A4.
Results: 97 patients presenting a single pathogenic variant of COL4A3 or COL4A4 were included.
A study to identify individuals at risk to be affected by late-onset Pompe disease who had previously been given a non-specific or tentative diagnosis for their muscle weakness (Pompe PURSUE).
Orphanet J Rare Dis
January 2025
Department of Human Genetics, Emory University, Atlanta, GA, USA.
Background: Late-onset Pompe disease (LOPD) is an autosomal recessive lysosomal storage disorder that results in severe progressive proximal muscle weakness. Over time, reductions in muscle strength result in respiratory failure and a loss of ambulation. Delayed diagnosis of LOPD deprives patients of treatments that can enhance quality of life and potentially slow disease progression.
View Article and Find Full Text PDFBehavioral and Electrophysiological Assessment of Central Auditory Processing in Individuals with Sickle Cell Disease.
Pediatr Blood Cancer
January 2025
Department of Audiology and Speech Therapy, Universidade Federal de São Paulo, Sao Paulo, Brazil.
Introduction: Sickle cell anemia has a genetic origin characterized by an autosomal recessive inheritance pattern. The nervous system may be subject to vaso-occlusion and, consequently, affect the proper functioning of the central portion of hearing.
Objective: To assess central auditory skills and analyze short- and long-latency auditory evoked potentials in children with sickle cell disease.
The Prevalence of Migraine in Children Diagnosed with Familial Mediterranean Fever.
Neuropediatrics
January 2025
Department of Pediatric Neurology, Izmir Katip Celebi University, Tepecik Training and Research Hospital, Izmir, Turkey.
Purpose: Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by recurrent episodes of fever and serositis, caused by mutations in the gene. Inflammatory pathways associated with FMF are linked to increased proinflammatory cytokines, which may be related to primary headaches, including migraine. The aim of this study was to evaluate the frequency of migraine and other primary headaches in FMF patients.
View Article and Find Full Text PDFBlended phenotype of TECPR2-associated hereditary sensory-autonomic neuropathy and Temple syndrome.
Ann Clin Transl Neurol
January 2025
Department of Neurology, Movement Disorders Program, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Uniparental isodisomy (UPiD) can cause mixed phenotypes of imprinting disorders and autosomal-recessive diseases. We present the case of a 3-year-old male with a blended phenotype of TECPR2-related hereditary sensory and autonomic neuropathy (HSAN9) and Temple syndrome (TS14) due to maternal UPiD of chromosome 14, which includes a loss-of-function founder variant in the TECPR2 gene [NM_014844.5: c.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!