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893 Possible Causes for Multiple Congenital Anomalies, prenatal and postnatal, Short Stature

  • Russell-Silver Syndrome

    Abstract A family is described with a syndrome of short stature, abnormal pigmentation of the skin and mild facial dysmorphism.[ncbi.nlm.nih.gov] Russell-Silver syndrome (RSS) should be suspected in patients with prenatal and postnatal growth retardation.[ncbi.nlm.nih.gov] congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome, malformation syndrome with short stature, polymalformative genetic syndrome with increased[commons.wikimedia.org]

  • Turner Syndrome

    stature (Short-Stature Group) were enrolled.[ncbi.nlm.nih.gov] Research Prenatal and postnatal...[doi.org] Cardiovascular anomalies are common and the most clinically frequent is coarctation of the aorta.[magicfoundation.org]

  • Wolf-Hirschhorn Syndrome

    This case, together with a familial 4p deletion involving the distal 400 kb reported in normal women, may narrow the critical region for short stature on 4p to 360-760 kb.[ncbi.nlm.nih.gov] The major features of this disorder include a characteristic facial appearance known as the "Greek helmet," delayed growth and development; prenatally and postnatally, intellectual[ncbi.nlm.nih.gov] The present case shows that not only deletions but also duplications of the Wolf-Hirshhorn critical region cause mental retardation and multiple congenital anomalies.[ncbi.nlm.nih.gov]

  • Smith Lemli Opitz Syndrome

    short stature ( Q77.4 ) hypochondroplastic short stature ( Q77.4 ) nutritional short stature ( E45 ) pituitary short stature ( E23.0 ) progeria ( E34.8 ) renal short stature[icd10data.com] Clinical picture encompasses prenatal and postnatal growth abnormalities and multisystemic structural malformations.[ncbi.nlm.nih.gov] We describe a female infant with morphologic features of Rutledge multiple-congenital-anomaly syndrome (RMCAS) and biochemical features of Smith-Lemli-Opitz syndrome (SLOS[ncbi.nlm.nih.gov]

  • Trisomy 18

    Our first patient is an 8(1/2)-year-old female with normal intelligence and no significant dysmorphic features other than short stature and cubitus valgus.[ncbi.nlm.nih.gov] The purpose of this manuscript is to present a model for the care of fetuses and infants with trisomy 13 and 18 during the prenatal, perinatal, and postnatal periods.[ncbi.nlm.nih.gov] Trisomy 18 or Edwards syndrome is a rare chromosomal anomaly, associated with mild to severe intellectual disabilities and multiple congenital anomalies.[ncbi.nlm.nih.gov]

  • Sanjad-Sakati Syndrome

    Sanjad Sakati Syndrome /Dysmorphism/ short stature 30 Days of Hope: Day Nine #NICUphotography, #preemie, #NICU, #placentaprevia, #34weeks, #preemiesupportandawareness, #capturinghopes[pinterest.es] It is characterized by congenital hypoparathyroidism, severe prenatal and postnatal growth retardation, and distinct facial dysmorphism.[ncbi.nlm.nih.gov] congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly,[orpha.net]

  • Noonan Syndrome

    […] signalling pathways involved in short stature.[doi.org] Diagnosis (prenatal vs postnatal) Table 1: Noonan Syndrome, major and minor diagnostic criteria.[pedclerk.bsd.uchicago.edu] Noonan syndrome (NS) is a multiple congenital anomaly syndrome caused by germline mutations in genes coding for components of the Ras-mitogen-activated protein kinase (RAS-MAPK[ncbi.nlm.nih.gov]

  • Down Syndrome

    stature, upward slanting eyes, a flattened nasal bridge, broad hands with short fingers, decreased muscle tone, and by trisomy of the human chromosome numbered 21 — called[merriam-webster.com] stature, brachycephaly, upslanting palpebral fissures, epicanthus, brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly[icd9data.com] Symptoms included constipation (20%), gastroesophageal reflux (18%), failure to thrive (10%), diarrhea (6%), and extreme short stature (4%).[journals.lww.com]

  • Cornelia De Lange Syndrome

    In its classical form, it is characterised by distinctive facial features, intra-uterine growth retardation, short stature, developmental delay, and anomalies in multiple[ncbi.nlm.nih.gov] It is characterized by intellectual disability (mild to severe), distinctive facial features, prenatal and postnatal growth retardation, and hirsutism.[ncbi.nlm.nih.gov] The Cornelia de Lange syndrome is a multiple congenital anomaly syndrome characterised by dysmorphic facial features, hirsutism, severe growth and developmental delays, and[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis

    The pathogenesis and treatment of systemic skeletal dysplasia in MPS IVA remains an unmet challenge.[ncbi.nlm.nih.gov] Diagnosis Prenatal screening studies that may be useful include the following: Chorionic villus sampling Amniocentesis Postnatal diagnostic studies that may be helpful include[emedicine.medscape.com] Birth history (Prenatal, Natal and Postnatal History) Gravida/ Para: G3P3 Tetanus toxoid: taken two doses TT Medication during pregnancy: was under continuous iron and calcium[slideshare.net]

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