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73 Possible Causes for Coronal Cleft of Vertebrae, Retrognathia, Short Neck

  • Kniest Dysplasia

    The mandibular retrognathia was pronounced at an early age but improved with growth. At age 11 years the patient had a straight facial skeletal profile.[ncbi.nlm.nih.gov] Manifestations included neonatal respiratory distress, large head, midface hypoplasia, flat nasal bridge, short nose, micrognathia, cleft palate, short neck, micromelia, and[ncbi.nlm.nih.gov] Two key features to look for in a patient with Kniest dysplasia is the presence of dumb-bell shaped femur bones and coronal clefts in the vertebrae.[en.wikipedia.org]

  • Klippel-Feil Syndrome

    The patient had an extremely small mandible, significant retrognathia, and severe limitation of cervical mobility due to cervical vertebral fusion.[ncbi.nlm.nih.gov] The short neck and its immobility and instability present a significant challenge for endotracheal intubation.[ncbi.nlm.nih.gov] A coronal cleft vertebra results from formation and persistence of separate ventral and dorsal ossification centers.[radsource.us]

  • Spondylometaphyseal Dysplasia

    Soon after birth he had lowhairline, mild hypertelorism, short neck, frontal bossing, retrognathia, broad hands, and short limbs.[cags.org.ae] Affiliated tissues include bone, and related phenotypes are low-set ears and short neck[malacards.org] Skeletal survey was markedly abnormal, with flattened vertebral bodies, absence of coronal clefts, 11 thoracic vertebrae, 6 lumbar vertebrae, squaring of the inferior scapulae[diabetes.medicclub.info]

  • Atelosteogenesis Type 2

    Note severe micrognathia/retrognathia with cleft palate, apparently low-set and malformed ears, small and narrow chest, protuberant abdomen with omphalocele, and short and[thehealthscience.com] […] middle phalanx of finger ; Short neck ; Short sacroiliac notch ; Stillbirth ; Talipes equinovarus ; Thoracic hypoplasia Associated Genes SLC26A2 (Withdrawn symbols: DTD,[mousephenotype.org] Defects: Hypertelorism and Hypotelorism Elisenda Eixarch and Bienvenido Puerto Chapter 69 Choanal Atresia Fatima Crispi and Bienvenido Puerto Chapter 70 Micrognathia and Retrognathia[elsevier.com]

  • Platyspondyly

    […] pellucidum Back pain Hypoglycemia Gonadoblastoma Slurred speech Feeding difficulties in infancy Prominent occiput Wheezing Abnormality of the penis Bilateral talipes equinovarus Retrognathia[mendelian.co] neck Short femoral neck Spondyloepiphyseal dysplasia Short metacarpal Irregular vertebral endplates Pain Autosomal recessive inheritance Arthralgia Joint laxity Waddling[mendelian.co] Rhizomelic form autosomal recessive Microcephaly Cleft palate Coronal cleft of vertebrae Kyphoscoliosis Rhizomelia PEX AR Usually lethal by age of 2 years Nonrhizomelic form[perinatology.com]

  • Achondrogenesis

    Hydrops fetalis and some facial features as retrognathia also have been reported as associated abnormalities.[apjr.net] Abstract We describe two dwarfed infants with large head, short neck and chest, prominent abdomen, and short limbs. Both died neonatally.[ncbi.nlm.nih.gov] Coronal clefts of the thoracolumbar vertebrae are a constant finding in this disorder.[rrnursingschool.biz]

  • Short stature-Valvular Heart Disease-Characteristic Facies Syndrome

    […] phalanges of the hand Pneumothorax Hand clenching Broad columella Biventricular hypertrophy Poroma Hypoplastic heart Heterogeneous Alopecia Decreased adipose tissue around neck Retrognathia[mendelian.co] The neck is short in nearly half of the patients. The facial appearance may change with age being more triangular in adolescents and adults.[ojrd.biomedcentral.com] Vertebral anomalies include hemivertebra, butterfly vertebrae, and coronal clefts. Supernumerary or absent ribs occur in 20 percent of affected individuals.[dermatologyadvisor.com]

  • Short Rib-Polydactyly Syndrome Type Beemer-Langer

    Ultrasonography demonstrated fetal hydrops, poren- cephalic cyst, severe retrognathia (A), omphalocele, and short ribs (B) and limbs (C). Fig. 2.[documents.tips] […] finger ; Short foot ; Short long bone ; Short neck ; Short palm ; Short ribs ; Short thorax ; Short toe ; Splenomegaly ; Thoracic dysplasia ; Ventricular septal defect ;[mousephenotype.org] The base of the ileum is hypoplastic and the vertebrae are rounded sometime with coronal cleft.[indianpediatrics.net]

  • Femoral Agenesis - Femoral Hypoplasia

    […] markers: Absent femur Absent kidney Bowed femur Fractured femur Hypoplastic femur/s Long philtrum Low set ear/s Mandibular asymmetry Maternal diabetes mellitus Micrognathia/retrognathia[phenotip.com] neck hypertelorism facial dysmorphism microtia/anotia severe micrognathia (severe mandibular hypoplasia) long philtrum severe hypoplasia of nasal bones flat nose choanal[humpath.com] Rhizomelic form autosomal recessive Microcephaly Cleft palate Coronal cleft of vertebrae Kyphoscoliosis Rhizomelia PEX AR Usually lethal by age of 2 years Nonrhizomelic form[perinatology.com]

  • Dyssegmental Dysplasia Type Rolland-Desbuquois

    Retrognathism see Retrognathia Retrograde ejaculation Retrolental fibroplasia Retroperitoneal fibrosis Retroperitoneal haemorrhage Retropharyngeal abscess Retrovir see Zidovudine[oppass.co.uk] Symptoms via clinical synopsis from OMIM: 58 Head And Neck Neck: short neck Head And Neck Mouth: cleft palate Chest External Features: narrow chest Skeletal Hands: camptodactyly[malacards.org] […] disc space narrowing Intervertebral disc calcifications Coronal cleft vertebral bodies Anterior vertebral body beaking Posterior scalloping of the vertebral bodies Anterior[gentili.net]

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