phenylephrine-hydrochloride and 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.

Topics: Chondrodysplasia Punctata; Female; Humans; Infant; Infant, Newborn; Male; Nasal Obstruction; Nose; Nose Diseases; Respiratory Insufficiency

Review of published cases of pregnancies in which coumarin derivatives or heparin were administered demonstrates that use of either class of anticoagulant carries substantial risks. Of 418 reported pregnancies in which coumarin derivatives were used, one-sixth resulted in abnormal liveborn infants, one-sixth in abortion or stillbirth and, at most, two-thirds in apparently normal infants. In addition to the expected hemorrhagic complications, fetal effects of coumarin derivative administration include a specific embryopathy and central nervous system abnormalities. All available cases (including unpublished ones) of warfarin embryopathy and central nervous system abnormalities following gestational exposure to coumarin derivatives are reviewed, various complications are tabulated, critical periods of teratogenesis are discussed and possible mechanisms proposed. The use of heparin during gestation does not result in a significantly better outcome of pregnancy. In 135 published cases, the infants in one-eighth were stillborn, in one-fifth premature (a third of whom died) and, again at most, in two-thirds apparently normal. Because of the substantial risks of both clases of anticoagulants, and the inherent risks of pregnancy complicated by the indications for anticoagulation, prevention of pregnancy is usually indicated. If pregnancy occurs, a relatively normal outcome can be anticipated in about two-thirds of the pregnancies regardless of the anticoagulant used. Heparin does not appear to be a clearly superior alternative to coumarin derivatives.

Topics: Abnormalities, Drug-Induced; Adult; Central Nervous System; Chondrodysplasia Punctata; Coumarins; Female; Fetal Death; Fetal Diseases; Gestational Age; Hemorrhage; Heparin; Humans; Infant, Newborn; Male; Nose; Pregnancy; Pregnancy Complications, Cardiovascular; Risk; Syndrome

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.

Topics: Chondrodysplasia Punctata; Female; Gestational Age; Humans; Infant, Newborn; Magnetic Resonance Imaging; Maxilla; Nose; Phenotype; Pregnancy; Retrospective Studies; Ultrasonography, Prenatal

Keutel syndrome is a rare autosomal recessive disorder, characterized by brachytelephalangia (short, broad distal phalanges), midfacial hypoplasia, abnormal cartilage calcifications, peripheral pulmonary stenosis and hearing loss. Binder profile is a well known maxillonasal dysplasia composed of midfacial hypoplasia with absence of anterior nasal spine and facial dysmophism (short nose, flat nasal bridge, perialar flatness, convex upper lip). Here we report a Keutel syndrome presenting with Binder phenotype, abnormal calcifications, hearing loss and respiratory insufficiency in the newborn period. Keutel syndrome should be considered in the differential diagnosis of children with tracheobronchial calcifications, midfacial hypoplasia and stippled epiphysis.

Topics: Abnormalities, Multiple; Calcinosis; Cartilage Diseases; Chondrodysplasia Punctata; Diagnosis, Differential; Fatal Outcome; Hand Deformities, Congenital; Humans; Infant, Newborn; Maxilla; Maxillofacial Abnormalities; Nose; Pulmonary Valve Stenosis

Patients with chondrodysplasia punctata (CDP) usually present with Binder-type features, and often CDP is misdiagnosed as Binder syndrome. This study reviewed the management and outcome of patients with Binder syndrome and CDP in a multidisciplinary setting.. The notes and radiographs of the patients managed at the Australian Craniofacial Unit with a multidisciplinary setting since 1976 were reviewed, and data were collected on patient demographics, associated medical and surgical problems, subsequent management, and complications.. Seventy-seven patients were treated over the 30-year period (5 patients were lost to follow-up); of the remaining 72 patients, 60 (83%) had Binder syndrome, and 12 (17%) were patients with CDP. Forty were males, and 32 were females, with an age range of 6 months to 47 years. Thirteen patients (18%) had a strong family history, and 65 patients (90%) have so far undergone surgical correction, and of those, 35 (54%) have completed their treatment, the longest follow-up time being 18 years. The mean number of surgical procedures was 2.4, and 18 patients (28%) had postoperative complications, which included partial necrosis of the maxilla, osteomyelitis of the mandible, facial nerve and inferior alveolar nerve neuropraxia, nasal bone graft exposure, and cellulitis.. Because of the phenotypic characteristics shared by both Binder syndrome and CDP, it is most likely that Binder syndrome is not a syndrome, nor is it an entity, but most likely to be an "association." We would advocate that these patients should be managed in a multidisciplinary setting.

Topics: Adolescent; Adult; Australia; Child; Child, Preschool; Chondrodysplasia Punctata; Diagnosis, Differential; Female; Humans; Infant; Male; Maxilla; Maxillofacial Abnormalities; Middle Aged; Nose; Phenotype; Postoperative Complications; Treatment Outcome

We report the prenatal management of a brachytelephalangic chondrodysplasia punctata (CDPX1) case and how postnatal findings confirmed the diagnosis. The mother was initially referred after ultrasound revealed an abnormal fetal mid-face and punctuation of upper femoral epiphyses. Chondrodysplasia punctata (CP) with Binder anomaly was suspected. 3D-HCT revealed brachytelephalangy suggesting CDPX1. At birth, mid-face hypoplasia was marked. Postnatal imaging and genetic analysis confirmed the initial diagnosis. Binder anomaly is probably always associated with CP. The newly revised CP classification facilitates the diagnosis. The main etiologies are metabolic and chromosomal abnormalities, and arylsulfatase E enzyme dysfunction. Thus, screening for arylsulfatase E mutation is mandatory for an accurate diagnosis and can lead to better delineation among CP etiologies associated with a Binder phenotype.

Topics: Amniocentesis; Arylsulfatases; Chondrodysplasia Punctata; Face; Female; Genetic Diseases, X-Linked; Humans; Male; Maxilla; Maxillofacial Abnormalities; Maxillofacial Development; Mutation, Missense; Nose; Pregnancy; Pregnancy Outcome; Prenatal Diagnosis; Ultrasonography, Prenatal

During the period 1991-2007, autopsy was undertaken in 13 fetuses with warfarin embryopathy. Pregnancy data and radiographic babygrams were available in each instance. Gestational age ranged from 17 to 37 weeks. Eleven of the fetuses had the characteristic nasal hypoplasia, but only three had radiological epiphyseal stippling. Cerebral hemorrhage was a major feature of autopsy in 8 of the fetuses, and it is evident that bleeding is a significant factor in the pathogenesis of warfarin embryopathy. A wide variety of additional visceral manifestations which were observed at autopsy have been tabulated. There was no obvious correlation between maternal or gestational age and the presence and severity of any specific embryopathic feature. No information was available concerning the dose and timing of warfarin administration in this series.

Topics: Abnormalities, Drug-Induced; Adolescent; Adult; Anticoagulants; Autopsy; Cerebral Hemorrhage; Chondrodysplasia Punctata; Female; Fetal Development; Heart Valve Diseases; Humans; Hyperplasia; Nose; Pregnancy; Retrospective Studies; Warfarin; Young Adult

Topics: Abnormalities, Drug-Induced; Adult; Anticoagulants; Chondrodysplasia Punctata; Female; Femur; Fetal Death; Fetal Growth Retardation; Gestational Age; Humans; Male; Nose; Pregnancy; Syndrome; Ultrasonography, Prenatal; Warfarin

Chondrodysplasia punctata is an uncommon group of congenital bone dysplasias. A common feature of this disease is a characteristic facial appearance including nasal hypoplasia. This paper describes the management of a case presenting with this disease in which soft tissue augmentation was achieved with tissue expansion of the nasal skin. Follow-up of more than 4 years demonstrates that a satisfactory result has been achieved, with no facial scars. The relevant literature is discussed.

Topics: Adult; Chondrodysplasia Punctata; Female; Humans; Nose; Rhinoplasty; Tissue Expansion

Topics: Bone and Bones; Cartilage; Child; Chondrodysplasia Punctata; Female; Humans; Metabolism, Inborn Errors; Mixed Function Oxygenases; Nose; Pregnancy; Teratogens; Vitamin K; Vitamin K Epoxide Reductases; Warfarin

This is a case report of an infant born with nasal hypoplasia, stippling of epiphyses, and toe deformities. This embryopathy is due to maternal ingestion of Warfarin during pregnancy. Other defects including ophthalmologic and neurologic abnormalities also occur, but the nasal malformation is the only constant clinical feature.

Topics: Abnormalities, Drug-Induced; Chondrodysplasia Punctata; Female; Humans; Infant, Newborn; Nose; Toes; Warfarin

Two siblings were noted to have the physical stigmata of the fetal warfarin syndrome. Their mother had received warfarin sodium for thrombophlebitis during both pregnancies but not during that of an unaffected sibling. Teratogens may produce syndromes that mimic genetic disease in both phenotype and familial aggregation.

Topics: Abnormalities, Drug-Induced; Adult; Cataract; Child, Preschool; Chondrodysplasia Punctata; Female; Humans; Infant; Infant, Newborn; Male; Maternal-Fetal Exchange; Nose; Pregnancy; Pregnancy Complications, Cardiovascular; Teratogens; Thrombophlebitis; Warfarin

Topics: Anticoagulants; Chondrodysplasia Punctata; Coumarins; Female; Humans; Nose; Pregnancy; Pregnancy Complications, Hematologic; Syndrome

Three small infants whose mothers had received oral anticoagulant therapy during the first trimester of pregnancy are described. These infants all had hypoplasia of the nasal bones, and two had stippling of epiphyses and bones and deformities of the bones of the hand. One child is mentally retarded. It is suggested that these abnormalities may be related to maternal oral anticoagulant therapy during the first trimester.

Topics: Abnormalities, Drug-Induced; Administration, Oral; Adult; Anticoagulants; Aortic Valve; Carpal Bones; Chondrodysplasia Punctata; Face; Female; Foot; Hand; Hand Deformities, Congenital; Heart Valve Prosthesis; Humans; Infant, Newborn; Male; Maternal-Fetal Exchange; Mitral Valve; Nasal Bone; Nose; Pregnancy; Pregnancy Complications; Pregnancy Trimester, First; Radiography

Topics: Chondrodysplasia Punctata; Congenital Abnormalities; Consanguinity; Diagnosis, Differential; Enchondromatosis; Epiphyses; Genetics, Medical; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Nose; Nose Deformities, Acquired; Optic Atrophy; Osteochondrodysplasias; Prognosis; Radiography; Terminology as Topic