Diagnosis Of Chondrodysplasia Punctata Research Articles

Severe nasomaxillary hypoplasia (Binder phenotype) on prenatal US/MRI: an important marker for the prenatal diagnosis of chondrodysplasia punctata.

Chondrodysplasia punctata is a skeletal dysplasia caused by a diverse spectrum of etiologies, with outcomes ranging from antenatal demise to a normal life span. Prenatal detection can be challenging. To review a series of cases of chondrodysplasia punctata associated with nasomaxillary hypoplasia, known as the Binder phenotype, and to highlight prenatal ultrasound and MRI findings, as well as postnatal MRI and radiographic findings. We retrospectively reviewed ultrasound, MRI and radiographic imaging findings in postnatally confirmed cases of chondrodysplasia punctata from 2001 to 2017. We analyzed prenatal findings and correlated them with maternal history, postnatal imaging, phenotype, genetics and outcome. We identified eight cases, all with prenatal US and six of eight with prenatal MRI between 18weeks and 32weeks of gestational age. Reasons for referral included midface hypoplasia in four cases; family history in one case; intrauterine growth restriction in one case; short long-bones, intrauterine growth restriction and multicystic kidney in one case; and multiple anomalies in one case. In six cases, postnatal radiographs were performed. In four cases, postnatal spine MRI imaging was performed. The diagnosis of chondrodysplasia punctata was suggested in prenatal reports in six of eight fetuses. Seven of eight fetuses had Binder phenotype with severe nasomaxillary hypoplasia. Limb length was mildly symmetrically short in four of eight cases and normal in four of eight fetuses. Two of eight fetuses had epiphyseal stippling identified prenatally by US; this was present postnatally in six neonates on radiographs. Hand and foot abnormalities of brachytelephalangy were not detected on the prenatal US or MRI but were present in six of eigth fetuses on postnatal radiographs or physical exam. Four of eight fetuses had prenatal spine irregularity on US from subtle stippling. Six of eight had spine stippling on postnatal radiographs. One fetus had cervicothoracic kyphosis on prenatal US and MRI, and this was postnatally present in one additional neonate. One case had prenatally suspected C1 spinal stenosis with possible cord compression, and this was confirmed postnatally by MRI. There was a maternal history of systemic lupus erythematosus in two and hyperemesis gravidarum in one. Outcomes included one termination and seven survivors. Chondrodysplasia punctata can be identified prenatally but findings are often subtle. The diagnosis should be considered when a fetus presents with a hypoplastic midface known as the Binder phenotype. Maternal history of lupus, or other autoimmune diseases or hyperemesis gravidarum can help support the diagnosis.

Challenges of Spine Surgery in Patients With Chondrodysplasia Punctata

Chondrodysplasia punctata (CDP) is a common manifestation of an etiologically heterogenous group of disorders. There is very little data regarding the development and management of spinal deformity in patients with CDP. The purpose of this study was to present a multicenter series of CDP, to describe the surgical outcomes of spinal deformities in CDP patients and to emphasize important considerations that may influence choice of surgical treatment of spinal deformity in this patient population. The medical records and spinal radiographs of patients with the diagnosis of CDP followed in 2 centers between 1975 and 2011 were retrospectively reviewed. Epiphyseal stippling was present on radiographs in all patients who fulfilled the clinical criteria. Among the 17 patients who were diagnosed with CDP, 13 had spinal deformities. The mean age at diagnosis of spinal deformity was 14.6 months (range, 1 wk to 9 y). Males and females were close to equally represented (10 males and 7 females). Twelve patients (92%) required surgery to correct spinal deformity. Patients were followed for a median of 8.4 years (range, 2.8 to 19.5 y). The total number of surgical procedures performed was 17 averaging 1.5 per patient. Four patients required >1 procedure. Eighty percent of the patients who required >1 surgical procedure were females with probable diagnosis of X-linked dominant CDP. Revision surgery was indicated in 50% of the patients treated with combined anterior and posterior fusion and 20% of the patients treated with posterior fusion alone. Spinal deformity in CPD patients may range from significant kyphoscoliosis to minimal deformity that does not require any treatment. For those patients in whom spine surgery was indicated, a high incidence of revision surgery and curve progression after fusion was recorded. Female patients with probable diagnosis of X-linked dominant CDP were more likely to require a second surgical procedure. Isolated posterior fusion showed less favorable results compared with combined anteroposterior fusion in terms of revision surgery. Level IV-therapeutic study.

Chondrodysplasie ponctuée récessive liée à l’X.Étude cytogénétique et place de la biologie moléculaire

Among the many acquired or constitutional causes of chondrodysplasia punctata, the X-linked recessive form is well individualized. Case report. – A male newborn presented a dysmorphic syndrome with a marked nasal hypoplasia, a macroglossia and a short neck. The diagnosis of chondrodysplasia punctata was made by radiography whereas the chromosomal chart revealed the existence of an additional Y fragment in Xpter, effectuating a partial disomy Yp and a monosomy Xpter. Molecular biology showed a deletion of very small size, isolated and located between the gene missing aryl sulfatase E and the microsatellite DXS 1233, sping gene MRX2 (non-specific gene of mental retardation), and making it possible to give the reassuring elements as regards the psychomotor prognosis, sometimes compromised in this disorder. Conclusion. – In case of chondrodysplasia punctata with dysmorphy, it is important to execute a chromosomal chart in the search for a chromosomal reorganization on the X and a study in molecular biology.

Airway manifestations of chondrodysplasia punctata

Chondrodysplasia punctata is a heterogeneous skeletal dysplasia characterized by small focal calcifications in articular and other cartilages in infancy, referred to as stippled epiphyses, with subsequent epiphysial dysplasia and associated anomalies of the face, eyes and skin. Nasal hypoplasia is commonly seen but secondary respiratory distress is infrequently described. We present two siblings with different degrees of involvement and a review of the different forms of this disorder. When an infant presents with a small nasal airway, the diagnosis of chondrodysplasia punctata should be considered and appropriate evaluations obtained.

Stippled epiphyses in fetal alcohol syndrome

We report on punctate epiphyseal calcifications (stippled epiphyses) in the fetal alcohol syndrome and present the differential diagnosis of chondrodysplasia punctata. A literature survey shows that epiphyseal calcifications accompanying alcoholic embryopathy are regularly located in the lower limbs and rarely found in the upper extremities.

Warfarin therapy initiated during pregnancy and phenotypic chondrodysplasia punctata

An infant is described who has clinical manifestations and roentgenographic features consistent with the diagnosis of chondrodysplasia punctata. The mother of this infant received warfarin during pregnancy. Eight cases demonstrating an association between warfarin therapy during pregnancy and chondrodysplasia punctata in the child have been reported; in the present case therapy was initiated following conception (see following case report). Warfarin may be teratogenic, producing a phencopy of the heritable forms of chondrodysplasia punctata. Because of the evident association we suggest (1) warfarin is contraindicated in pregnancy and alternative anticoagulants should be used; (2) products of at-risk pregnancies should be screened for the characteristic radiologic findings; and (3) preconceptual counselling and antenatal diagnosis of the disease may be beneficial.