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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.[] Manifestations included neonatal respiratory distress, large head, midface hypoplasia, flat nasal bridge, short nose, micrognathia, cleft palate, short neck, micromelia, and[] 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.[]

  • Klippel-Feil Syndrome

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

  • Spondylometaphyseal Dysplasia

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

  • 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[] […] middle phalanx of finger ; Short neck ; Short sacroiliac notch ; Stillbirth ; Talipes equinovarus ; Thoracic hypoplasia Associated Genes SLC26A2 (Withdrawn symbols: DTD,[] Defects: Hypertelorism and Hypotelorism Elisenda Eixarch and Bienvenido Puerto Chapter 69 Choanal Atresia Fatima Crispi and Bienvenido Puerto Chapter 70 Micrognathia and Retrognathia[]

  • Platyspondyly

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

  • Achondrogenesis

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

  • 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[] The neck is short in nearly half of the patients. The facial appearance may change with age being more triangular in adolescents and adults.[] Vertebral anomalies include hemivertebra, butterfly vertebrae, and coronal clefts. Supernumerary or absent ribs occur in 20 percent of affected individuals.[]

  • 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.[] […] finger ; Short foot ; Short long bone ; Short neck ; Short palm ; Short ribs ; Short thorax ; Short toe ; Splenomegaly ; Thoracic dysplasia ; Ventricular septal defect ;[] The base of the ileum is hypoplastic and the vertebrae are rounded sometime with coronal cleft.[]

  • 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[] neck hypertelorism facial dysmorphism microtia/anotia severe micrognathia (severe mandibular hypoplasia) long philtrum severe hypoplasia of nasal bones flat nose choanal[] Rhizomelic form autosomal recessive Microcephaly Cleft palate Coronal cleft of vertebrae Kyphoscoliosis Rhizomelia PEX AR Usually lethal by age of 2 years Nonrhizomelic form[]

  • Dyssegmental Dysplasia Type Rolland-Desbuquois

    Retrognathism see Retrognathia Retrograde ejaculation Retrolental fibroplasia Retroperitoneal fibrosis Retroperitoneal haemorrhage Retropharyngeal abscess Retrovir see Zidovudine[] 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[] […] disc space narrowing Intervertebral disc calcifications Coronal cleft vertebral bodies Anterior vertebral body beaking Posterior scalloping of the vertebral bodies Anterior[]

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