No abstract available.
Chondrodysplasia Punctata* ; Korea*

X-linked recessive chondrodysplasia punctata (CDPX1) is caused by a hemizygous mutation in the arylsulfatase E (ARSE) gene located on chromosome Xp22.3. It is a rare congenital disorder of punctate calcifications in cartilages, leading to short stature and facial and limb anomalies. These clinical features are frequently observed in all types of chondrodysplasia punctata and have also been seen in other cartilage developmental disorders. Because of the phenotypical similarities, specific testing for only one gene is inefficient and time consuming. The advent of next-generation sequencing has provided an opportunity to improve diagnostic accuracy as well as save on time and cost. Here, we report on a patient diagnosed with CDPX1, who was identified via diagnostic exome sequencing to have a novel nonsense mutation in the ARSE gene, that was inherited from the mother.
Cartilage ; Chondrodysplasia Punctata* ; Codon, Nonsense* ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Exome ; Extremities ; Humans ; Mothers

Xp/Yq translocations are rare chromosomal rearrangements, and the phe-notype of male carriers varies according to the segment of the Xp region that is deleted. In this case report, we describe a der(X)t(X;Y)(p22.31;q11.22) translocation, detected by conventional cytogenetic analysis, in a male fetus at a gestational age of 16 weeks. Chromosomal analysis of parental blood confirmed that this chromosomal aberration had been maternally inherited. Array comparative genomic hybridization (CGH) analysis of fetal blood further indicated a nullisomy of Xp22.31-pter and a breakpoint between the STS and KAL1 genes. The STS, NLGN4, ARSE, CSF2RA, and SHOX genes are present in the region that was deleted, and are known to be related to conditions such as X-linked ichthyosis, chondrodysplasia punctata, mental retardation, and facial dysmorphism in humans. Prenatal ultrasonographic findings and autopsy results were consistent with Xp22.31-pter deletion phenotypes. Genetic counseling was provided for the mother. The observations from this case study indicate that advanced molecular techniques can provide a more precise prenatal diagnosis of chromosomal anomalies than conventional cytogenetics can.
Autopsy ; Chondrodysplasia Punctata ; Chromosome Aberrations ; Comparative Genomic Hybridization ; Cytogenetic Analysis ; Cytogenetics ; Fetal Blood ; Fetus ; Genetic Counseling ; Gestational Age ; Humans ; Ichthyosis ; Intellectual Disability ; Male ; Mothers ; Parents ; Phenotype ; Prenatal Diagnosis

Chondrodysplasia Punctata ; congenital ; Humans ; Infant, Newborn ; Male

Warfarin is an oral anticoagulant which is known to cross the placenta causing birth defects, known as warfarin embryopathy; fetal effects of early gestational exposure to warfarin is known to cause marked nasal hypoplasia, rhizomelia, and stippled epiphyses. The period of greatest sensitivity is 6 to 9 weeks of gestational age. Clinical studies have suggested that discontinuing warfarin before 6 weeks of gestational age could avoid the teratogenic effect. We experienced a women who had been taking warfarin for 15 years because of SLE (Systemic Lupus Erythematosus) and CRF (Chronic renal failure), who was found to be pregnant at 9 weeks of gestation. She discontinued warfarin and started heparin treatment, however the ultrasound examination showed shortened long bone, scalp edema, and cardiac anomaly (Ventricular septal defect), and termination of pregnancy was performed at 17 weeks of gestation. We report a case of warfarin embryopathy resulting from warfarin exposure until 9 weeks of gestation with a brief review of literature.
Abnormalities, Drug-Induced ; Chondrodysplasia Punctata ; Congenital Abnormalities ; Edema ; Female ; Fetal Diseases ; Gestational Age ; Heparin ; Humans ; Morphinans ; Nasal Bone ; Placenta ; Pregnancy ; Scalp ; Warfarin

Binder syndrome is a maxillonasal dysostosis characterized by midface and nasal hypoplasia. It is sometimes associated with short terminal phalanges of fingers and toes and transient radiological features of chondrodysplasia punctata. It is associated with vitamin K deficiency during pregnancy. We describe here a baby with Binder syndrome who was born from mother with cholelithiasis during pregnancy.
Cholelithiasis ; Chondrodysplasia Punctata ; Dysostoses ; Finger Phalanges ; Humans ; Infant ; Maxilla ; Maxillofacial Abnormalities ; Mothers ; Nose ; Pregnancy ; Toes ; Vitamin K ; Vitamin K Deficiency

X-linked dominant chondrodysplasia punctata is a rare congenital disorder characterized by transient punctate epiphyseal calcifications and ichthyotic skin changes, usually resolving during early infancy. We experienced a baby girl born with a thickened and diffusely red integument with adherent scales following the lines of Blaschko and punctata calcification, flat nose. We report a case of condrodysplasia punctata, X-linked dominant type which was confirmed with gene study.
Chondrodysplasia Punctata* ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Female ; Humans ; Ichthyosis ; Nose ; Skin ; Weights and Measures

Chondrodysplasia Punctata is a rare congenital disorder of bone in infant, which is characterized by radiographic manifestation of premature deposition of punctata calcific density in epiphyseal areas, preformed in cartilage. Chondrodysplasia Punctata includes two different disorders: a rhizomelic, potentially lethal variety and a nonrhizomelic variety (Conradi-Hunermann syndrome) which is more common and generally benign. These two conditions have different clinical, genetic, and radiographic characteristics. We experienced a case of rhizomelic Chondrodysplasia Punctata (RCDP) in a fetus of intrauterine pregnancy at 19 weeks who was terminated because of ultrasonographic demonstration of gross skeletal and midfacial anomaly. Thus, we report a case with brief review of the literature.
Cartilage ; Chondrodysplasia Punctata* ; Chondrodysplasia Punctata, Rhizomelic ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Fetus ; Humans ; Infant ; Pregnancy

The early and accurate antenatal diagnosis of fetal musculoskeletal malfomations with a poor outcome has important implications for the management of a pregnancy. Careful ultrasonographic examination of a fetus helps detect such anomalies, and a number of characteristic features may suggest possible differential diagnoses. During the last five years, we have encountered 39 cases of such anomalies, and the typical prenatal ultrasonographic and pathologic findings of a number of those are described in this article.
Chondrodysplasia Punctata/diagnosis ; Female ; Fetal Diseases/*diagnosis ; Human ; Musculoskeletal Abnormalities/*diagnosis/radiography/ultrasonography ; Osteogenesis Imperfecta/diagnosis ; Pregnancy ; Pregnancy Outcome ; *Prenatal Diagnosis ; Thanatophoric Dysplasia/diagnosis ; *Ultrasonography, Prenatal

A three year old boy was admitted due to minor anomalies, such as hypertelorism, clinodactyly, ear anomaly, simian crease, renal anomalies, cryptorchism and mild mental retardation. The chro-mosome and FISH analysis showed 46,Y,der(X)t(X;Y)(p22.3;q11.2), and the same chromosomal pattern was found in the mother, who showed no phenotypic anomalies or mental retardation. According to previously reported X-Y translocation cases, the Xp22.3 was the most common breakpoint and many X-linked diseases, which are regulated by the genes located in Xp22.3, were expressed in a variable pattern, such as chondrodysplasia punctata, X-linked ichthyosis, mental retardation, Kallmann syndrome as the sole anomaly or a complex pattern. This boy did not show the typical anomalies that correspond to the above diseases. However, regular follow up and addi-tional studies with adequate counseling will be necessary due to the possibility of delayed ccurence of other typical symptoms and problems such as infertility as he grows up.
Chondrodysplasia Punctata ; Counseling ; Cryptorchidism ; Ear ; Humans ; Hypertelorism ; Ichthyosis ; Infertility ; Intellectual Disability* ; Kallmann Syndrome ; Male ; Mothers