Humans ; Osteogenesis Imperfecta/diagnosis*

Diagnosis, Differential ; Female ; Humans ; Middle Aged ; Osteogenesis Imperfecta ; diagnosis ; therapy

Osteogenesis imperfecta (Ol) type V is distinct Ol phenotype that has recently been described. Patients with this phenotype present characteristically with interosseous membrane calcification and hyperplastic callus formation. We present the clinical and radiographic characteristics of two Filipino families diagnosed to have Ol type V. Through this review of cases, we aim to educate healthcare providers by highlighting salient clinical and radiographic features to aid in the recognition of this specific Ol phenotype, difficulties in diagnosis, current practices in management and fracture prevention, and issues in genetic counseling.

Osteogenesis imperfecta is a heterogeneous group of disorders that are characterized by connective tissue defects resulting in bone fragility, blue sclera, impaired hearing, defective dentition, and hyperlaxibility of the joints. The overall incidence of osteogenesis imperfecta is estimated at 1/25,000. We recently experienced a case of osteogenesis imperfecta type II diagnosed in uterus by ultrasonogram and confirmed after termination of pregnancy and autopsy. We report a case here with a brief review of the literature.
Autopsy ; Connective Tissue ; Dentition ; Diagnosis* ; Hearing ; Incidence ; Joints ; Osteogenesis Imperfecta* ; Osteogenesis* ; Pregnancy ; Sclera ; Ultrasonography* ; Uterus*

Osteogenesis imperfecta is a relatively rare genetic condition of breakable bones with an incidence of 1 per 20,000~60,000. The clinical, genetic, and biochemical heterogeneity in osteogenesis imperfecta allows to least four subtypes to be distinguished. Prenatal diagnosis of osteogenesis imperfecta type II have been reported several times with ultrasonography. We recently experienced a case of osteogenesis imperfecta diagnosed in uterus by ultrasonogram and confirmed after termination and autopsy. We report here with a brief review of the literature.
Autopsy ; Incidence ; Osteogenesis Imperfecta* ; Osteogenesis* ; Population Characteristics ; Prenatal Diagnosis ; Ultrasonography* ; Uterus*

Osteogenesis Imperfecta (OI) is a relatively rare hereditary disease, which is characterized by multiple bone fractures and spine scoliosis, due to the fragility of bone, and is often associated with blue sclerae, deafness and dentinogenesis imperfecta. Four types of OI can be distinguished, according to the clinical findings. Although mutations affecting type I collagen are responsible for the disease in most patients, the mechanism by which the genetic defects cause abnormal bone development remains to be fully understood. Here, the clinical characteristics of 10 OI patient cases are reported, with a review of the literature. All the cases, including 4 type I, 4 type III and 2 type IV, inherited OI as an autosomal dominant trait. All the subjects had multiple old fractures and decreased bone densities. In this study, the biochemical marker of bone formation, serum alkaline phosphatase, was found to be increased only in the pediatric OI patients, while the biochemical marker of bone resorption, urinary deoxypyridinoline, was increased in all cases. The mobility score was found to correlate with the severity of the type on diagnosis.
Alkaline Phosphatase ; Biomarkers ; Bone Density ; Bone Development ; Bone Resorption ; Collagen Type I ; Deafness ; Dentinogenesis Imperfecta ; Diagnosis ; Fractures, Bone ; Genetic Diseases, Inborn ; Humans ; Osteogenesis Imperfecta* ; Osteogenesis* ; Sclera ; Scoliosis ; Spine

PURPOSE: To investigate the clinical features of the nevus of Ota in the Korean population. METHODS: A retrospective chart review of the medical records from 94 patients (100 eyes), diagnosed to have a nevus of Ota from September 2005 to February 2010, was performed. RESULTS: The mean age of detection of a nevus of Ota was 8 months, and the mean extent of the nevus was 253 degrees, which covered more than 2 quadrants in most cases. The patients with a faint nevus tended to be younger. Pigmentation did not reach the fornix, but the limbus was mostly pigmented. Combined conjunctival pigmentation was observed in 61.7% of cases. The pigmentation was significantly associated with a greater extent of the nevus. Iris pigmentation was demonstrated in 98.7% of cases. CONCLUSIONS: The clinical features of nevi of Ota were diverse regarding the location, extent, and color of the lesion. Conjunctival pigmentation was associated with the extent of the nevus. Iris pigmentation was revealed in almost all cases; therefore, this feature had the diagnostic value for a nevus of Ota. Young patients with a nevus of Ota may mimic osteogenesis imperfecta, which necessitates careful consideration upon differential diagnosis.
Diagnosis, Differential ; Humans ; Hydrazines ; Iris ; Medical Records ; Nevus ; Nevus of Ota ; Osteogenesis Imperfecta ; Pigmentation ; Retrospective Studies

Osteogenesis imperfecta is a group of inherited connective-tissue disorders in which synthesis or structure of type I collagen is defective and causes osseous fragility. Type IV osteogenesis imperfecta is dominant inheritance. Here, we report a case of type IV osteogenesis imperfecta family and their female member's pregnancy. Abnormal sonographic findings (marked bowing and shortening of long bones) and family history made the diagnosis of fetus with osteogenesis imperfecta. The parents decided to give up rescuing the infant and a caesarean section at 27 weeks of gestation was implemented. In conclusion, it is possible to make a prenatal diagnosis of osteogenesis imperfecta by ultrasound. For the pregnant women with osteogenesis imperfecta, management decision should be made on an individual basis.
Adult ; Female ; Gestational Age ; Humans ; Osteogenesis Imperfecta ; diagnosis ; diagnostic imaging ; Pregnancy ; Pregnancy Complications ; Ultrasonography

OBJECTIVE: To identify the pathogenic variant for a husband with osteogenesis imperfecta and provide preimplantation genetic testing (PGT) for the couple. METHODS: High-throughput sequencing and Sanger sequencing were carried out to identify the pathologic variant in the husband patients. PGT of embryos was performed through direct detection of the mutation site. Meanwhile, chromosome aneuploidy of the blastocysts was screened. Following transplantation, cytogenetic and genetic testing of fetal amniotic fluid sample was carried out during mid-pregnancy. Chromosome copy number variant (CNV) was detected at multiple sites of the placenta after delivery. RESULTS: The husband was found to harbor heterozygous c.544-2A>G variant of the COL1A1 gene. The same variant was not detected in either of his parents. PGT revealed that out of three embryos of the couple, one was wild-type for the c.544-2A site but mosaicism for duplication of 16p13.3.11.2. The other two embryos were both heterozygous for the c.544-2A>G variant. Following adequate genetic counseling, the wild-type embryo was transplanted. Amniotic fluid testing confirmed that the fetus had normal chromosomes and did not carry the c.544-2A>G variant. The copy number of chromosomes at different parts of placenta was normal after birth. CONCLUSION For couples affected with monogenic disorders, e.g., osteogenesis imperfecta, direct detection of the mutation site may be used for PGT after identifying the pathogenic variant. After adequate genetic counseling, prenatal diagnosis must be carried out to ensure the result.
Aneuploidy ; China ; Female ; Genetic Testing ; Humans ; Osteogenesis Imperfecta/genetics* ; Pregnancy ; Preimplantation Diagnosis

OBJECTIVE: To carry out preimplantation genetic testing (PGT) for a couple where the husband was affected by osteogenesis imperfecta combined with balanced translocation using the karyomapping technique. METHODS: Blastocysts were detected using karyomapping, the carrier status of COL1A1 c.760G>A (p.Gly254Arg) variant and the carrier status of the translocated chromosome were analyzed simultaneously. RESULTS: For a total of 10 blastocysts, two euploid blastocysts were found to not carry the COL1A1 c.760G>A (p.Gly254Arg) variant but a balanced translocation. After transplanting one of the blastocysts, clinical pregnancy was achieved. Amniocentesis at 18th gestational week and prenatal genetic testing was in keeping with the result of PGT.A healthy female was born at 40+4 weeks gestation. CONCLUSION For patients simultaneously carrying genetic variant and balanced chromosomal translocation, PGT can be performed with efficiency by the use of karyomapping method.
Blastocyst ; Female ; Fertilization in Vitro ; Genetic Testing ; Humans ; Osteogenesis Imperfecta/genetics* ; Pregnancy ; Preimplantation Diagnosis ; Spouses ; Translocation, Genetic