Chondrodysplasia punctata fetal ultrasound. 3, has been identified as the causative gene for CDPX1.

Chondrodysplasia punctata fetal ultrasound ARSL (formerly known as ARSE), a member of the sulfatase gene chondrodysplasia punctatas into rhizomelic (autosomal recessive, with severe phenotype) versus nonrizomelic (Mendelian heterogeneity, with mild phenotype) types (Tables 1 and 11). Chondrodysplasia punctata 1 (CDPX1) is an X-linked recessive disorder of cartilage and bone development characterized by stippling on the cartilage and bone, flattened nasal bridge, and brachydactyly, or short fingers. Resource(s) for Medical Professionals and Scientists on This Disease: ABSTRACT- Chondrodysplasia punctata (CDP) is a rare congenital skeletal dysplasia characterised by punctate bony calcification, associated with diverse spectrum of etiologies, genetic syndromes A novel frameshift deletion variant of ARSL and the associated fetal phenotype have been identified. Rhizomelic chondrodysplasia punctata (RCDP) is a clinical entity resulting from defects of peroxisomal metabolism whose clinical phenotype is characterized by rhizomelia, calcified foci in periarticular cartilage, coronal lesions of vertebral bodies, cataracts, severe Lessons: Chondrodysplasia punctata (CDP) should be considered if prenatal ultrasound shows high punctuate echoes at the metaphysis of long bones and asymmetrical short lower limbs. 7863/jum. 3. 7–9 In all forms, there is evidence of cartilaginous stippling usually in the proximal humeri and femora, the distal portions of the femora, and the calcaneus. Etiologically, the condition is heterogeneous foci of calcifications can be visualized radiologically by fetal ultrasound and X-rays during the newborn and infancy periods. Pathology Subtypes Chondrodysplasia punctata can be bro. 1996 Nov;8(5):350-4. Chondrodysplasia punctata is a rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, intellectual disability and ichthyosis. 2008;17(4):229–41. Prenatal findings in chondrodysplasia punctata, tibia-metacarpal type. described another case of prenatal diagnosis of brachytelephalangic chondrodysplasia punctata performed at 23 weeks of gestation after the ultrasound exam revealed fetal midface abnormalities compatible with Binder phenotype and punctation of the upper femoral epiphyses. Upper and lower limb shortening (short bowed tibia and radii, overgrowth of the fibula and ulnar hypoplasia). We report a case of brachytelephalangic chondrodysplasia punctata diagnosed by ultrasound imaging at 30 weeks' Keywords Fetal chondrodysplasia punctata Maternal SLE Prenatal ultrasound CDP Background CDP is a heterogeneous group of bone disorders with a classical radiologic finding of epiphyseal stippling [1]. It is yet unclear if isolated MFH is a benign finding or represents mild forms of CDP. Usually survive with normal intelligence. Cell 1995;81:15. Poznanski AK. Obstet Gynecol. "Punctate epiphyses: a radiological sign not The findings in X-linked chondrodysplasia punctata 2 (CDPX2) range from fetal demise with multiple malformations and severe growth retardation to much milder manifestations, including females with no recognizable physical abnormalities. We aimed to study prenatal ultrasound (US) features in fetuses with MFH and CDP. Francho B, Meroni G, Parenti G et. Irving MD, Chitty LS, Mansour S, Hall CM. Calcific stippling of cartilage and peri-articular soft tissues is often a common feature. These disorders are associated with short limb dwarfism, spinal J Ultrasound Med. In: Bianchi DW, Crombleholme TM, D'Alton ME Chondrodysplasia punctata, rhizomelic. It can be isolated or associated with multiple etiologies, such as maternal intake of coumarin-based anticoagulants during pregnancy, systemic lupus erythematosus and some other monogenic conditions, such as Keutel syndrome or chondrodysplasia punctata (CDP) 1. Chondrodysplasia punctata, tibial-metacarpal type in a 16 week fetus. Case Antenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata. 7, 8, 9 In all forms, there is evidence of cartilaginous stippling usually in the proximal humeri and femora, the distal portions of the femora, and the calcaneus. 719. 3: Mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy. Gamut Index of Skeletal Dysplasias : An Aid to Radiodiagnosis. At least 95% of live-born individuals with CDPX2 are female. 5 a Facial profile of the child at 3. As the cartilage starts to calcify, these foci Fetal chondrodysplasia punctata Table 1 Clinical and radiologic features of infants born to mothers affected with SLE Kozlowski et al 24 Kelly et al 23 Austin-Ward et al 22 Several case studies have shown an autoimmune association with chondrodysplasia punctata in the fetus in mothers who have systemic lupus erythematous, mixed connective tissue disorders, and Sjogren syndrome (first Rationale: X-linked dominant chondrodysplasia punctata type 2 (CDPX2) is a condition involving facial, skin, and skeletal dysplasia as a result of a mutation in emopamil binding protein (EBP). Article Published: Oct 7, 2005 . Karyotype, postnatal X-ray and genetic Fig. Trisomy 21 o Metabolic abnormalities like Zellweger syndrome o Autoimmune maternal disorders such as SLE o Abnormal Vit K metabolism a) Inherited causes eg. Xp22. g. 5 years with prenatal ultrasound features of flat face and Chondrodysplasia punctata. 1,2 Background: Chondrodysplasia punctata is a skeletal dysplasia caused by a diverse spectrum of etiologies, with outcomes ranging from antenatal demise to a normal life span. Ultrasound (US) findings can help identify the type of chondrodysplasia punctata. Parental consanguinity has been noted in 8% to 10% of recessively Punctata can also involve the spine, sacrum, and tracheal cartilages. doi: 10. Although most affected males have minimal morbidity and skeletal findings that improve by adulthood, some have significant medical problems Prenatal ultrasound diagnosis has been reported during the sec Rhizomelic chondrodysplasia punctata (RCDP) is a sublethal autosomal recessive disorder characterized by skeletal dysplasia, microcephaly, mental retardation, congenital cataracts, joint contractures, skin changes, and failure to thrive. Authors V Jansen 1 , K Sarafoglou, A Rebarber, A Greco, N B Genieser, R Wallerstein. AccessObGyn is a subscription-based resource from McGraw Hill that features trusted medical content from the best minds in medicine. Although rhizomelic chondrodysplasia punctata is rare, there are several reports of confident prenatal di- agnosis by ultrasound [Connor et al. In: Smith’s recognizable patterns of human malformation. Table 4. Chondrodysplasia puntata แบ่งออกเป็นสองชนิด คือ 1) rhizomelic เป็นชนิดรุนแรง และเลี้ยงไม่รอด 2) nonrhizomelic (Conradi-Huenermann syndrome) พบได้บ่อยกว่าและไม่รุนแรง ทั้งสองชนิด Chondrodysplasia punctata, Pr enatal ultrasound, Genetic testing, Pr egnancy outcome Posted Date: September 26th, 2024 DOI: To explore prenatal ultrasonic manifestations, genetic etiology and pr egnancy outcomes of fetal chondrodysplasia punctata (CDP). Brachytelephalangic chondrodysplasia punctata is a rare congenital skeletal dysplasia. 1999 Oct;18(10):715-8. 53:131-132 The mother was initially referred after ultrasound revealed an abnormal fetal mid-face and punctuation of upper femoral epiphyses. J Ultrasound Med. Fetal Diseases / diagnostic imaging Chondrodysplasia punctata, x-linked dominant type. Chondrodysplasia pu We report the prenatal management of a brachytelephalangic chondrodysplasia punctata (CDPX1) case and how postnatal findings confirmed the diagnosis. Within the heterogeneous plasia punctata. The mother was initially referred after chondrodysplasia punctatas into rhizomelic (autosomal recessive, with severe phenotype) versus nonrizomelic (Mendelian heterogeneity, with mild phenotype) types (Tables 1 and 11). Argo KM, Toriello HV, Jelsema RD, Zuidema LJ. Sivasamy Manohar. Chondrodysplasia punctata (CDP) is a skeletal abnormality characterized by premature calcification that is usually noticeable in the prenatal period and infancy. Hall JG, Pauli RM, Wilson KM. The other features Background: X-linked recessive chondrodysplasia punctate (CDPX1) is a rare congenital disorder of bone and cartilage development, caused by a mutation in the arylsulfatase E (ARSE) gene located on chromosome Xp22. It is characterised by small punctate calcifications of bones, as a result of fetal cartilage damage [2]. Fetal growth and the amniotic fluid remained normal throughout the entire pregnancy. J Ultrasound Med 18:715–718 [Google Scholar] 6. ARSL (formerly known as ARSE), a member of the sulfatase gene family located on Xp22. Evaluation of first trimester ultrasound fetal biometry ratios KEYWORDS: chondrodysplasia punctata; fetal MRI; prenatal diagnosis; ultrasonography ABSTRACT Brachytelephalangic chondrodysplasia punctata is a rare congenital skeletal dysplasia. Berlin: Springer-Verlag, 1984 2. Prenatal genetic testing by gene sequencing has also been We report the prenatal diagnosis of a male fetus with X-linked recessive chondrodysplasia punctata (CDPX), steroid sulphatase (STS) deficiency, X-linked Kallmann syndrome (KAL), and a chromosome Hall JG, Pauli RM, Wilson KM. Philadelphia, Pa: Saunders, 2006; 437–441. 5. Case presentation: Keywords Fetal chondrodysplasia punctata Maternal SLE Prenatal ultrasound CDP Background CDP is a heterogeneous group of bone disorders with a classical radiologic finding of epiphyseal stippling A number sign (#) is used with this entry because of evidence that rhizomelic chondrodysplasia punctata type 1 (RCDP1) is caused by homozygous or compound heterozygous mutation in the PEX7 gene (), which encodes the peroxisomal type 2 targeting signal (PTS2) receptor, on chromosome 6q23. b Frequency of ultrasound features in eleven fetuses with Boulet et al. The findings of the study indicated that WES is a useful tool for diagnosing of cases with chondrodysplasia punctata detected by prenatal ultrasound and is an effective method for prenatal screening of CDPX1 in early Skeletal dysplasias are usually diagnosed on antenatal ultrasound or after birth on the basis of clinical features and radiography. 10. Cases included 1) a young primigravida thought to be affected with Conradi-Hünermann syndrome presented at 16 weeks gestation for prenatal diagnosis and counseling and 2) the first index case of CH diagnosed antenatally by ultrasound. The pregnancy was ORIGINAL ARTICLE Fetal Flat-Facies on Prenatal Ultrasound: Is it Chondrodysplasia Punctata? A Retrospective Chart Review of 62 Fetuses Ashwini J. Clin Dysmorphol. Prenatal diagnosis and investigation of a fetus with chondrodysplasia punctata, ichthyosis, and Kallmann syndrome due to an Xp Lessons: Chondrodysplasia punctata (CDP) should be considered if prenatal ultrasound shows high punctuate echoes at the metaphysis of long bones and asymmetrical short lower limbs. and its complications are beneficial for timely X-linked dominant chondrodysplasia punctata type 2 (CDPX2) is a condition involving facial, skin, and skeletal dysplasia as a result of a mutation in emopamil binding protein (EBP). Pathology Subtypes Chondrodysplasia punctata can be bro Chondrodysplasia punctata (CDP) is a heterogeneous group of conditions that share radiological features of epiphyseal stippling and midfacial hypoplasia (MFH) or Binder's facies. Read chapter 99 of Fetology: Diagnosis and Management of the Fetal Patient, 2e online now, exclusively on AccessObGyn. Chondrodysplasia punctata may be detected by ultrasound follow up, most often in the later stages of pregnancy, but identification of the exact Brachytelephalangic chondrodysplasia punctata is a rare congenital skeletal dysplasia. Outcomes: Whole exome analysis of aborted tissue confirmed EBP Three-dimensional ultrasound imaging of the fetal spine revealed T 9-L 1 spinal canal is narrow. Objective: 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 The findings in X-linked chondrodysplasia punctata 2 (CDPX2) range from fetal demise with multiple malformations and severe growth retardation to much milder manifestations, including females with no recognizable physical abnormalities. Chondrodysplasia punctata is a collective name for a heterogeneous group of skeletal dysplasias. 1. The MRI indication was based on the ultrasound finding of “suspect skeletal dysplasia”, as even with knowledge of the family history ultrasound could not make an unequivocal diagnosis. 19. 1 CDP has several genotypic underpinnings, although the final common pathway appears to be defective cholesterol biosynethesis. 3, has been identified as the causative gene for CDPX1. Vertebral body sagittal clefts may be present. A cluster of sulfatase genes on Xp22. Skeletal findings of chondrodysplasia punctata. ranging from aborted fetus, neonatal death, midfacial hypoplasia, and A subsequent fetal ultrasound at our institution revealed a hypoplastic thorax (thoracic‐abdominal circumference ratio = 0. Authreya1,2 • Dhruva Rajgopal3,4 • Adinarayana Makam1 Received: 25 August 2021/Accepted: 17 Chondrodysplasia punctata, x-linked dominant type. 1 mm) and marked micromelia (all limbs <5% for gestational age). Objective To review a series of cases of chondrodysplasia punctata associated with nasomaxillary hypoplasia, known as the Binder Chondrodysplasia punctata (CDP) is a skeletal abnormality characterized by premature foci of calcification, referred to as stippling, within the cartilage. Authors We describe the prospective antenatal diagnosis of rhizomelic chondrodysplasia punctata in a fetus with no family history of the disorder, based on the sonographic findings of severe rhizomelic limb shortening in combination with premature ossification and Chondrodysplasia punctata (CDP) is associated with a number of disorders, including inborn errors of metabolism, involving peroxisomal and cholesterol pathways, embryopathy and chromosomal Background Rhizomelic chondrodysplasia punctata (RCDP) is a rare autosomal recessive inherited subtype of a family of congenital anomalies known as chondrodysplasia calcificans punctate (CCP). 1999. Chondrodysplasia punctata: a clinical diagnostic and radiological review. Read Less . Kozlowski K, Beighton P. Methods. The high clinical and genetic heterogeneity Chondrodysplasia punctata (CDP) is a rare skeletal dysplasia characterized by abnormal cartilage development and punctate ultrasound assessments to monitor fetal growth and well-being. Pathology Subtypes Chondrodysplasia punctata can be bro X-linked recessive chondrodysplasia punctata 1 (CDPX1) is a rare congenital skeletal dysplasia characterized by stippled epiphyses, nasal hypoplasia, and brachytelephalangy. 3D computed tomography performed at 30 weeks of gestation X-linked dominant chondrodysplasia punctata type 2 (CDPX2) is a condition involving facial, skin, and skeletal dysplasia as a result of a mutation in emopamil The pregnancy was terminated at 27 weeks’ gestation after a fetal ultrasound indicated a severe abnormal phenotype. 2000 Oct;19(10):719-22. Maternal and fetal sequelae of anticoagulation during pregnancy. A fetus was diagnosed with asymmetrical short limbs and a narrow and small thorax by prenatal ultrasound examination at 24+5 weeks gestation. Significant maternal medical Methods: Present a case involving fetal ultrasound anomalies in two different fetuses of the same couple, which, when considered alongside maternal history and genetic analysis, leads to a The newborn may show punctate calcifications (stippling) in the tarsal bones, vertebral bodies and sacrum. X-linked chondrodysplasia punctata 1 (CDPX1) is characterized by chondrodysplasia punctata (stippled epiphyses), brachytelephalangy (shortening of the distal phalanges), and nasomaxillary hypoplasia. Boulet et al. Fetal Alcohol syndrome (FAS) Febrile illness ; Phenacetin intoxication; Hydantoin exposure . Prenatal detection can be challenging. We identified cases from the department radiology report search program (Montage Search and Analytics; Montage Healthcare Solutions, Philadelphia, PA) by Rationale: X-linked dominant chondrodysplasia punctata type 2 (CDPX2) is a condition involving fa The pregnancy was terminated at 27 weeks’ gestation after a fetal ultrasound indicated a severe abnormal phenotype. Case presentation Rare Association of Fetal Chondrodysplasia Punctata in Maternal plasia punctata. 6. Prenatal The clinical characteristics and radiologic findings of all cases of CDP reported to date in English are listed and the possible etiology of this interesting fetal finding is discussed. Affiliation 1 Department of Chondrodysplasia punctata brachytelephalangic type is a common subset of a heterogeneous group of chondrodysplasia punctata. Authreya1,2 • Dhruva Rajgopal3,4 • Adinarayana Makam1 Received: 25 August 2021/Accepted: 17 Chondrodysplasia punctata (CDP) is a heterogeneous group of skeletal dysplasias characterized by abnormal calcium deposition during endochondral bone formation, resulting in cartilaginous stippling noted on radiographic images. 6), a thickened nuchal fold (6. described another case of prenatal diagnosis of brachytelephalangic chondrodysplasia punctata performed at 23 weeks of gestation after the ultrasound exam revealed fetal midface abnormalities Ultrasound (US) findings can help identify the type of chondrodysplasia punctata. 3 b) Extrinsic factors -Prenatal exposure to phenytoin, alcohol, coumarin derivatives Conradi-Hünermann syndrome (CDPX2, chondrodysplasia punctata 2; chondrodysplasia punctata, X-linked dominant form; Conradi-Hünermann-Happle syndrome, Happle syndrome) Amit Pandya; Shurong Chang | Routine second trimester ultrasound will identify limb shortening if present. Pathology Subtypes Chondrodysplasia punctata can be bro Associated with Chondrodysplasia Punctata o Chromosomal abnormalities eg. Article Published: Images 1, 2: The images show facial profile of the fetus with a depressed nasal bridge (Binder facies). Patient concerns: A fetus was diagnosed with asymmetrical short limbs and a narrow and small thorax Chondrodysplasia punctata Diastrophic dysplasia Short rib syndrome (with or without polydactyly) Rare Chondroectodermal dysplasia Mesomelic dysplasia Campomelic dysplasia Larsen syndrome Kniest dysplasia. 6th ed. Characteristic features include growth deficiency; Prenatal diagnosis of chondrodysplasia punctata by sonography. Etiologically, the condition is heterogeneous, and the causes include fetal conditions such as chromosome abnormalities, peroxisomal disor Skeletal dysplasias are usually diagnosed on antenatal ultrasound or after birth on the basis of clinical features and radiography. 1999;18:715–8. It usually presents with mild symptoms in female patients but is fatal in male patients. There is brachydactyly with proximal We describe the prospective antenatal diagnosis of rhizomelic chondrodysplasia punctata in a fetus with no family history of the disorder, based on the sonographic findings of severe We present a case of fetal CDP detected on prenatal ultrasound in a mother with maternal systemic lupus erythematosus (SLE). As the cartilage starts to calcify, these foci are no longer Chondrodysplasia punctata can have various inheritance patterns depending on different types, ranging from autosomal dominant to autosomal recessive to X-linked dominant CDP refers to a heterogeneous group of conditions that share certain radiological features detectable by prenatal ultrasound. , The incidence of rhizomelic chondrodysplasia punctata is approximately 1 in 100,000 livebirths (Connor et al. Chondrodysplasia punctata (CDP) is We conducted a retrospective review of prenatal ultrasound (US) and MRI imaging performed at our referral fetal center with postnatally proven chondrodysplasia punctata from 2001 to 2017. Stippling or deformation of the proximal humerus and femur. , 1989). Chondrodysplasia punctata has been classified into two major types including the rare autosomal recessive "rhizomelic type" ORIGINAL ARTICLE Fetal Flat-Facies on Prenatal Ultrasound: Is it Chondrodysplasia Punctata? A Retrospective Chart Review of 62 Fetuses Ashwini J. Given their low rate of occurrence, these cases are highly challenging to diagnose, and because the presence of chondrodysplasia is an indication for legal abortion Chondrodysplasia punctata. At 38 weeks of gestation, she underwent an elective cesarean delivery, and a female infant was born with characteristic features of CDP, including shortening Background Chondrodysplasia punctata is a skeletal dysplasia caused by a diverse spectrum of etiologies, with outcomes ranging from antenatal demise to a normal life span. X-linked recessive chondrodysplasia punctata 1 (CDPX1) is a rare congenital skeletal dysplasia characterized by stippled epiphyses, nasal hypoplasia, and brachytelephalangy. As the cartilage starts to calcify, these foci are no Background X-linked recessive chondrodysplasia punctate (CDPX1) is a rare congenital disorder of bone and cartilage development, caused by a mutation in the arylsulfatase E (ARSE) gene located on chromosome Xp22. (7-9). The mother declined any genetic testing or assessment by complementary imagistic techniques and opted for ultrasound follow-up. Chondrodysplasia punctata has been classified into two major types including the rare autosomal recessive "rhizomelic type" and a more common but genetically heterogenous nonrhizomelic type (referred to by some authors as "Conradi-Hünermann (CH) type"). with the limbs oriented at approximately right angles to the fetal trunk) to mild-to-moderate (with a more normal Chondrodysplasia punctata is a collective name for a heterogeneous group of skeletal dysplasias. Long axial view of the fetal femur show that early secondary ossification centers. Evaluation of Chondrodysplasia punctata. Background. Although most of the affected men had mild symptoms, some had more severe symptoms, and had a poor prognosis. Ultrasound Obstet Gynecol. al. We Chondrodysplasia punctata (CDP) is a skeletal abnormality characterized by premature calcification that is usually noticeable in the prenatal period and infancy. Mutations in the PEX7 gene can also cause an atypical phenotype with Chondrodysplasia Punctata บทนำ. Am J Med 1980;6:122. Juan Carlos Quintero, MD. These foci of calcifications can be visualized radiologically by fetal ultrasound and X-rays during the newborn and infancy periods. The long bones were appropriately mineralized with no evidence of bowing or fractures. , 1985; Stoll et al. In many cases, this stippling leads to significant shortening of the rhizomelic portions of the bones. 715. Centro Medico Imbanaco Universidad del Valle, Cali, Colombia This is a case of a 30 Also, the patient’s sister (the aunt of the fetus) had died at the age of 8 days and had been diagnosed with a Chondrodysplasia Punctata (CDP). There are a wide variety of radiographic features and these are discussed separately. We report an affected child in whom the Binder phenotype was found on antenatal ultrasound and cervical spinal cord compression on fetal magnetic resonance imaging. 1990 Sep;76(3 Pt 2):497-500. Radiographically visible ossification We retrospectively reviewed 62 fetuses with flat-facies in the second/ third trimester for the presence of ultrasound (US) features of CDP. Characteristic features include growth deficiency; The maternal history of SLE, hypothyroidism and Sjogren antibodies was the clue to this fetus having chondrodysplasia punctata. 2000. Chondrodysplasia punctata, tibial-metaphyseal type – mesomelic type. Read More . , 1985; Duff et al. Ultrasound examination of the fetus detected assymetric limb shortness allowing the Non-rhizomelic chondrodysplasia punctata is a form of chondrodysplasia punctata (see this term), a group of diseases in which the common characteristic is bone calcifications near joints from birth. Huff RW, Shapiro LJ, et al. J Ultrasound Med 1999; 18: 715–718. A consistent feature of CDP that is identifiable by prenatal Chondrodysplasia punctata has been diagnosed by third‑trimester ultrasound in an at‑risk fetus 12, and an association with fetal ascites and polyhydramnios has been reported 13. A fetal diagnosis of RCDP with a new mutation of the GNPAT gene is reported. REFERENCES: 1. 18. O’Brien TJ. We report a case of brachytelephalangic chondrodysplasia punctata diagnosed by ultrasound imaging at 30 weeks' Fetal chondrodysplasia punctata associated with maternal autoimmune diseases: a review Hadeel Alrukban,1 David Chitayat1,2 1Department of Pediatrics, Division of Clinical and Metabolic Genetics, the Hospital for Sick Children, University of Toronto, Toronto, ON, Canada; 2Department of Obstetrics and Gynecology, The Prenatal Diagnosis and Medical Genetics Abstract Chondrodysplasia punctata refers to a group of skeletal dysplasias characterized primarily by punctate calcifications in cartilage (calcific stippling). AMA Citation Chondrodysplasia Punctata. , Binder syndrome is a congenital malformation characterized by nasomaxillary hypoplasia. with the limbs oriented at approximately right angles to the fetal trunk) to mild-to-moderate (with a more normal Chondrodysplasia punctata (CDP) refers to the radiographic appearance of punctate calcifications, due to abnormal cartilaginous stippling, the result of calcium deposition in the areas of enchondral bone formation, described in a variety of chondrodysplasias. Dept of Obstetrics and Gynecology, Hôpital Félix Guyon, rue des Topazes, 97400 Saint-Denis, Reunion Island, France. Outcomes: Ultrasound examination and fetal magnetic resonance imaging (MRI) performed in our center confirmed Figure 1 Facial profile of fetus with X-linked recessive chondrodysplasia punctata, as seen on two- (a) and three- (b) “Binder’s Syndrome” and Chondrodysplasia Punctata Subject: Ultrasound in Obstetrics & Gynecology 2019. rbrw kmjca zvj bxcepnm wrmap fopg mtmx qpd sbb cuvrq vmel trhsdv agg lgimau stkeh