Clinical Dysmorphology最新文献

Objective: MAGED2 -related Bartter syndrome is a rare X-linked disorder characterized by severe fetal polyuria, polyhydramnios, preterm birth, and increased perinatal morbidity. This study evaluates the efficacy of amnioreduction in prolonging gestation and improving outcomes in affected pregnancies.

Methods: We analyzed three cases of severe polyhydramnios detected via prenatal ultrasound. Whole-exome sequencing (WES) was performed to identify causative mutations. Two cases underwent therapeutic amnioreduction, while the third received expectant management. Clinical outcomes, including gestational age at delivery and neonatal complications, were compared.

Results: WES confirmed hemizygous MAGED2 mutations in all fetuses. The two cases treated with amnioreduction were delivered at 35 weeks 2 days and 37 weeks 1 day, respectively, with no severe neonatal complications. In contrast, the untreated case was delivered prematurely at 32 weeks and 6 days, resulting in transient brain damage requiring postnatal rehabilitation.

Conclusion: Amnioreduction mitigates polyhydramnios-driven preterm birth in MAGED2 -related Bartter syndrome, enabling safer gestational prolongation. Integration of WES for rapid genetic diagnosis and multidisciplinary care optimizes prenatal management. These findings support amnioreduction as a critical intervention for this high-risk population, emphasizing early genetic testing, and proactive fetal therapy.

Introduction: Cerebellofaciodental syndrome (CFDS) (OMIM# 616202) is an autosomal recessive neurodevelopmental disorder with an incidence of one in 10 000 000. To date, only 15 cases have been reported in the literature. It is characterized by dysmorphic features, microcephaly, short stature, intellectual disability, and central nervous system anomalies.

Case report: Here, we describe a case presenting with short long bones, restricted limb movements, and growth restriction during the antenatal period. After birth, the infant exhibited facial dysmorphism, microcephaly, a bell-shaped thorax, short extremities, brachydactyly, clinodactyly, and a short penis. The clinical features were suggestive of skeletal dysplasia or BRF1-related syndromes.

Results: Whole exome sequencing identified a homozygous pathogenic missense variant, c.875C>G (p.Pro292Arg), in the BRF1 gene (NM_001519.4), confirming a diagnosis of CFDS.

Conclusion: This case highlights the phenotypic overlap between CFDS and Roberts syndrome, emphasizing the need for a better delineation of the disease's genotypic and phenotypic spectrum. It also underscores that growth failure can be evident before the onset of neurodevelopmental abnormalities and characteristic facial features.

Introduction and objective: Complete monosomy 21 is a rare and lethal chromosomal disorder, with fewer than 50 cases reported. Its mosaic form is the only viable presentation, yet the full phenotypic spectrum remains poorly understood, prompting this work to expand clinical and cytogenetic insights.

Methods: We report the first genetically confirmed African case in a female infant referred for genetic testing because of distinctive dysmorphic features. Blood karyotype revealed 45,XX,-21[2]/46,XX[28] mosaicism, and fluorescence in-situ hybridization showed 15 and 25% mosaicism in blood and buccal cells, respectively. A systematic literature review identified 23 previously reported cases, including nine isolated and 14 with additional chromosomal abnormalities.

Results: The average maternal age was 27.5 years, unlike trisomy 21, where advanced maternal age is a major risk factor. Clinical manifestations include microcephaly, craniofacial dysmorphism, and congenital heart defects, with more severe phenotypes in complex cases. Hematological anomalies vary, with anemia in isolated and thrombocytopenia in complex cases. Notably, our patient displayed previously unreported peripheral hypothyroidism. The correlation between mosaicism levels and clinical severity remains unclear, highlighting the need for multi-tissue analyses.

Conclusion: TThis study expands current knowledge of mosaic monosomy 21 and emphasizes the value of detailed cytogenetic assessment and phenotypic characterization to better define its clinical spectrum.