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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 18 weeks and 32 weeks 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.

Radiologic manifestations of X-linked chondrodysplasia punctata (CDPX1) typically include chondrodysplasia, epiphyseal stippling, punctate calcification of cartilage, distal phalangeal hypoplasia, and nasal/midface hypoplasia. We present an infant with CDPX1 demonstrating calcification and stenosis of the entire trachea and mainstem bronchi, as well as possible anterior C1 subluxation due to progression of congenital vertebral dysplasia.

Keutel syndrome (KS) is a rare, autosomal recessive condition characterized by diffuse cartilaginous calcification, nasal hypoplasia, brachytelephalangy, and peripheral pulmonary stenosis. A review of the literature produced only 15 reported patients, of whom plain radiographs of the hand or a detailed report are available for review in ten. A distinctive pattern of broadening and shortening of the first through fourth distal phalanges, with sparing of the fifth distal phalanx, is seen in seven of these patients. Two additional patients with Keutel syndrome and this identical finding are presented. I suggest that this pattern of brachytelephalangy is sensitive and highly suggestive of the diagnosis of Keutel syndrome.

Severe cervical spine stenosis with cord compression has not been well documented in brachytelephalangic chondrodysplasia punctata. We report two boys with phenotypic features of brachytelephalangic chondrodysplasia punctata who had severe cervical spine stenosis secondary to dysplastic cervical vertebrae, and discuss the significance of this association and its relation to the phenotypically similar Binder phenotype.

Punctate epiphyses are caused by a diverse group of conditions. They may be an inherited part of certain bone dysplasias or an incidental finding occurring occasionally in various disorders. The pattern of the puncta together with other radiologic findings aid in making the correct diagnosis.

We describe ante- and postnatal imaging of a 1-year-old otherwise healthy girl with Raine syndrome. She presented with neonatal respiratory distress related to a pyriform aperture stenosis, which was diagnosed on CT. Signs of chondrodysplasia punctata, sagittal vertebral clefting and intervertebral disc and renal calcifications were also found on imaging. This new case confirms that Raine syndrome is not always lethal. The overlapping imaging signs with chondrodysplasia punctata and the disseminated calcifications give new insights into its pathophysiology.

The radiographic observation of stippled calcification in cartilage defines the chondrodysplasia punctata group of bone dysplasias. Several other diseases may be associated with the radiographic finding of punctate epiphyses, usually uncommonly - for example, trisomy 21. Other more subtle chromosomal abnormalities also associated with punctate epiphyses include microdeletions of the X chromosome. A case of Turner syndrome with punctate calcification of the epiphyses is described.

We report a case of chondrodysplasia punctata tibia–metacarpal type (CDP-TM) that was diagnosed prenatally using multidetector CT (MDCT) with three-dimensional (3-D) CT reconstructions. Prenatal US had shown severe thoracic hypoplasia and rhizomelic shortening of the limbs, raising the suspicion of thanatophoric dysplasia. However, MDCT showed punctate calcifications in the epiphyseal cartilage of the humeri and femora, carpal bones, and paravertebral region. On 3-D CT, the tibiae were much shorter than the fibulae, the humeri were very short and bowed, and severe platyspondyly was evident. These findings led to the diagnosis of CDP-TM. The diagnosis was confirmed on postnatal radiographs. Prenatal MDCT with 3-D images may make a useful contribution to prenatal diagnosis in selected fetuses with severe skeletal dysplasia.

A 15-year-old boy presented with bilateral pain and stiffness in the hips, knees and ankles. He had been known for many years to have recessive multiple epiphyseal dysplasia (MED). Radiographs of the knees showed abnormally shaped knee epiphyses and a double-layered patella (DLP) consisting of anterior and posterior portions (Fig. 1, asterisks). Radiographs of the feet revealed short metatarsal bones and irregularly shaped tarsal bones with ossification. Additionally, there was a peculiar bony fusion of the sesamoid bones of the first toe bilaterally, resulting in a heart-shaped appearance (Fig. 2, arrows). MED is a heterogeneous group of skeletal dysplasias that may show an autosomal dominant or a recessive pattern of inheritance. Abnormalities of epiphyseal ossification are the hallmark of the disorder. DLP is highly diagnostic for recessive MED [1, 2]. The heart-shaped deformity of the sesamoid bones in MED has not been previously reported. The diagnostic significance of this sign remains to be established.

Trisomy 7p is a rare condition involving partial or complete duplication of the short arm of chromosome 7. Radiological features include large fontanelles, widened sutures, dolicocephaly and asymmetrical skull. We report a new radiological finding of punctate calcifications in the region of femoral trochanters. This finding has not previously been reported with chromosome 7p duplication.

Punctate or stippled cartilaginous calcifications are associated with many conditions, including chromosomal, infectious, endocrine, and teratogenic etiologies. Some of these conditions are clinically mild, while others are lethal. Accurate diagnosis can prove instrumental in clinical management and in genetic counseling.To describe the diagnostic radiographic features seen in Pacman dysplasia, a distinct autosomal recessive, lethal skeletal dysplasia.We present the fourth reported case of Pacman dysplasia and compare the findings seen in our patient with the three previously described patients.Invariable and variable radiographic findings were seen in all four cases of histologically proven Pacman dysplasia.Pacman dysplasia presents both constant and variable diagnostic radiographic features.

Duplication of the calcaneus is a rarely observed radiographic finding that probably results from delayed coalescence of two primary calcaneal centers of ossification. We performed a review of 2,500 computerized cases of skeletal dysplasias and syndromes with bone involvement in the International Skeletal Dysplasia Registry, searching for those cases in which a duplicate calcaneus had been recorded. We found that it was a non-random feature of three skeletal dysplasias and groups comprising thanatophoric dysplasia and the chondrodysplasia punctata and short rib (polydactyly) groups. We conclude that duplication of the calcaneus should be considered a consistent feature of these entities and may reflect a more generalized developmental defect.

We report a male neonate with craniofacial dysmorphic features, multiple congenital anomalies and an unusual form of chondrodysplasia punctata. Radiographic examination revealed punctate epiphyses and coronal clefting of the thoracic spine. The hand radiographs showed some similarities to the brachytelephalangic type of chondrodysplasia punctata. However, the disorder did not fit well with any known entity of chondrodysplasia punctata or other condition characterized by punctate epiphyses.

Objective. To assess the role of coronal and sagittal vertebral clefts in diagnosing skeletal dysplasias. Material and Methods. A search in the database at the International Skeletal Dysplasia Registry revealed 40 different diagnoses in which coronal or sagittal clefts were present, the major groups being: atelosteogenesis, chondrodysplasia punctata, dyssegmental dysplasia, Kniest dysplasia and short rib polydactyly syndrome. We reviewed all firm cases with both AP and lateral films of the spine in these major groups (n = 143), with patients' ages ranging from 20 weeks of gestation up to 26 years of age. Results. Ninety-four percent of all clefts were found in children less than 1 year of age, mainly located in the thoracolumbar region. Fifty-six percent of the clefts were observed in boys. Coronal clefts were more common than sagittal clefts. Clefts were most frequently observed in atelosteogenesis (88 %), followed by chondrodysplasia punctata (79 %), dyssegmental dysplasia (73 %), Kniest dysplasia (63 %) and short rib polydactyly syndrome (53 %). Conclusion. Vertebral clefts are of major diagnostic value in the groups mentioned above, especially before 1 year of age. The search did not come up with new entities in which vertebral clefts are of major diagnostic value.

A patient with warfarin embryopathy developed progressive cervical spinal myelopathy owing to bony cervical spinal damage. While there are several descriptions of warfarin embryopathy, the long-term complication of cervical spinal instability has not been reported. This cervical instability may, as in our patient, cause severe neurological dysfunction or even sudden death; therefore, it is important that pediatric radiologists should be alert to this condition.

A 2-month-old boy presented with cartilage calcification, brachytelephalangism, peripheral pulmonary stenosis, hearing loss, short stature and slight psychomotor delay. This case is similar to the two cases described by Keutel in 1972. Since then, four other cases have been reported; we report the seventh case and discuss the clinical findings and the incidence of the disease.

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.

45 children presenting with acute hip pain were prospectively evaluated with conventional radiography, radioisotope bone scan, and magnetic resonance imaging (MRI). The final diagnoses were transient synovitis (n = 17), septic arthritis (n = 2), Legg-Calve-Perthes disease (LCPD, n = 13), epiphyseal dysplasia (n = 2), other conditions (n = 4), and normal findings (n = 7). In the work-up MRI provided more morphologic information than other techniques and enlarged the diagnostic possibilities. It was the only imaging technique able to give an early indication of bone marrow involvement in systemic diseases. For the early diagnosis of LCPD, MRI was as sensitive as isotope bone scan and more precise than conventional radiography. In the follow-up of LCPD patients MRI was not able to indicate the start of revascularisation of the necrotic area, which bone scans showed reliably in six patients: but MRI provided excellent evaluation of the position, form and size of the femoral head and the surrounding soft tissues.

A girl with chondrodysplasia punctata who showed changes consistent with “Unclassified Multiple Malformation Syndrome” at the age of 9 years is presented. The disease could not have been recognised had not the neonatal films been presented.

Administration of warfarin during pregnancy may cause a rare syndrome characterized by nasal hypoplasia, usually associated with stippled epiphyseal and extraepiphyseal calcifications resembling chondrodysplasia punctata. A case of chondrodysplasia punctata after warfarin with 18 months follow-up is reported.

A 7-year-old girl with unusual facial features, punctate calcifications of the cartilage and congenital conductive deafness is presented. It is suggested that this case may represent a hitherto undescribed syndrome since the findings in this patient do not fit into any of the well described disorders such as Conradi's disease, oto-palato-digital syndrome or cerebro-hepato-renal syndrome.