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11 Possible Causes for Downslanting Palpebral Fissures, Long Lashes, Slender Long Bones

  • Hallermann-Streiff Syndrome

    Slender long bones with fractures have been described in a fetus with facial appearance of HSS. 4 We think that fractures of long bones should be considered a possible complication[adc.bmj.com] The ophthalmologic exam revealed microphthalmia, iris atrophy, blue sclera, microcorneea, aphakia, downslanting palpebral fissures, bilateral upper eyelid entropion, pendular[iovs.arvojournals.org] Characteristic changes in the bones of the skull and the long bones of the arms and legs can usually be seen on x ray.[encyclopedia.com]

  • Cerebro-Facio-Thoracic Dysplasia

    bones (especially the tibias), small scapulae, hy-poplastic and poorly ossified cervical vertebrae,large head, small facies, small hands, and slender clavicles and ribs (Maroteaux[rrnursingschool.biz] , syndactyly of toes Ritscher-Schinzel: Dandy-Walker malformation of the brain; atrioventricular septal defect Hypertelorism, downslanting palpebral fissures, low-set ears[en.wikibooks.org] The thoracic cage is also small in campomelic dysplasia (OMIM 114290, 211900), a disorder of the newborn that is characterized by congenital bowing and angulation of long[rrnursingschool.biz]

  • Gingival Fibromatosis-Hypertrichosis Syndrome

    In most cases, individuals with Laband syndrome also have malformations of the hands and feet including abnormally long, slender fingers and toes (arachnodactyly) that may[rarediseases.org] The facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly[mendelian.co] […] eye lashes.[jisppd.com]

  • Distal Symphalangism

    long bone Delayed epiphyseal ossification Retinal detachment Prominent nasal bridge Thoracic platyspondyly Infantile onset Congenital cataract Wide nasal bridge High palate[mendelian.co] palpebral fissures Pectus excavatum Visual impairment Depressed nasal bridge Cataract Abnormal facial shape Ptosis Motor delay Sensorineural hearing impairment Micrognathia[mendelian.co] Delayed eruption of teeth Thin cortex of diaphyses Polydactyly - postaxial (ulnar)/type unspecified Long/large nose Missing permanent teeth/retained deciduous teeth Bowing[head-face-med.biomedcentral.com]

  • Blepharofacioskeletal Syndrome

    long bone Cleft palate Hypoplastic labia majora Patellar aplasia Low-set ears Labial hypoplasia Birth length less than 3rd percentile Absent speech Round face Tubular atrophy[mendelian.co] He had downslanting palpebral fissures, epicanthic folds, bilateral microtia, a small tongue and full lips, a small palate with broad gums and irregular teeth ( Figure 1d[nature.com] TRICHOMEGALY (LONG LASHES) 1. Associated with cataract and hereditary spherocytosis 2.[dentisty.org]

  • 10q22.3-q23.3 Microdeletion Syndrome

    Anomalies included cutis laxa, arachnodactyly, clubfoot, wormian bones, moderate bowing of long bones with slender bone trabeculae, rib fractures, undermuscularized diaphragm[readbyqxmd.com] palpebral fissures;HP:0000582 Upslanted palpebral fissure;HP:0000601 Hypotelorism;HP:0000717 Autism;HP:0001166 Arachnodactyly;HP:0001250 Seizures;HP:0001382 Joint hypermobility[pediascape.org] Exotropia, hyperopia and long lashes were reported in a child with del(1)(p32.1p32.3) [ 13 ].[entokey.com]

  • Pelvic Dysplasia-Arthrogryposis of Lower Limbs Syndrome

    long bone 60 33 hallmark (90%) Very frequent (99-80%) HP:0003100 7 hip dislocation 60 33 frequent (33%) Frequent (79-30%) HP:0002827 8 spina bifida occulta 60 33 frequent[malacards.org] Typical facial characteristics include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge[mendelian.co] […] eye lashes, long philtrum, low-set ears, short upturned nose, thin downturned lips OTHER: developmental delay (severe speech delay mild-moderate MR), seizures (23%), congenital[quizlet.com]

  • Osteogenesis Imperfecta Congenita - Microcephaly - Cataracts Syndrome

    The long bones were slender with a few frac- tures, the skull was underossified, and the face was characteristic of Hallermann-Streiff syndrome.[documents.mx] palpebral fissures AD FGFR2 #123790 BECKWITH-WIEDEMANN SYNDROME Deep-set eyes, hypertelorism, epicanthal folds, downslanting palpebral fissures, synophrys AD, sporadic (majority[eyewiki.aao.org] […] development GU anomalies (hypogonadism) Ear anomalies (hearing loss) Cornelia De Lange Syndrome *AD, most new mutations POOR GROWTH GERD Synophrys-eyebrows grow together Long[quizlet.com]

  • Stevenson Carey Syndrome

    long bone Abnormality of the wrist Ulnar deviation of the hand Ulnar deviation of the hand or of fingers of the hand Azotemia Hypertensive retinopathy Ankle swelling Metacarpal[mendelian.co] The facial appearance is striking: microcephaly, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum extending below the alae, highly arched[ommbid.mhmedical.com] Gripp et al [2011a] reviewed physical findings in 12 individuals with this variant and noted a distinctive phenotype including dolichocilia (extremely long eye lashes, often[ncbi.nlm.nih.gov]

  • Lower Limb Deficiency-Hypospadias Syndrome

    slender fingers and delayed bone age [ 15 ].[bmcpregnancychildbirth.biomedcentral.com] Additional features included downslanting palpebral fissures, high-arched palate, small mouth, low-set and posteriorly rotated ears, nuchal oedema, pulmonary hypoplasia, hypospadias[orbi.ulg.ac.be] […] eye lashes, long philtrum, low-set ears, short upturned nose, thin downturned lips OTHER: developmental delay (severe speech delay mild-moderate MR), seizures (23%), congenital[quizlet.com]

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