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150 Possible Causes for Delayed Bone Age, Desbuquois Dysplasia, Thick Lips

  • Spondyloepimetaphyseal Dysplasia Type SPONASTRIME

    (Spondyloepiphyseal dysplasia, Rolland - Desbuquois dysplasia, Wolcott-Rallisson syndrome, Dyggve-Melchior-Clausen syndrome) Heterogeneous group of rare disorders, characterized[sites.uclouvain.be] bone age.[ncbi.nlm.nih.gov] […] vermilion border Full lips Increased volume of lip Plump lips Prominent lips Thick lips [ more ] 0012471 5%-29% of people have these symptoms Cataract Clouding of the lens[rarediseases.info.nih.gov]

  • Skeletal Dysplasia

    Abstract We report a boy with Desbuquois dysplasia type 1.[ncbi.nlm.nih.gov] A 14% of patients showed a low mean GH concentration during sleep, presenting also a markedly low IGF-1 level and marked delay of bone age [ 81 ].[intechopen.com] Note dysplasia, scaphocephalic macrocephaly, coarse facial features, depressed nasal bridge, broad nasal tip, thick lips, short neck, protuberant abdomen, inguinal hernia,[emedicine.medscape.com]

  • Hypertrichotic Osteochondrodysplasia

    […] epiphysealis hemimelica Dysplasia of head of femur, Meyer type Dysplastic cortical hyperostosis Dyssegmental dysplasia, Rolland-Desbuquois type Dyssegmental dysplasia, Silverman-Handmaker[se-atlas.de] bone age; [Skull]; Widened posterior fossa; Enlarged sella; [Spine]; Platyspondyly; Ovoid-shaped vertebral bodies (childhood); Cuboid-shaped vertebral bodies (post-puberty[genome.jp] […] eyebrow Bushy eyebrows Dense eyebrow Heavy eyebrows Prominent eyebrows Thick eyebrows [ more ] 0000574 Thick vermilion border Full lips Increased volume of lip Plump lips[rarediseases.info.nih.gov]

  • Lenz-Majewski Syndrome

    dysplasia 2 Sequencing of all coding exons of the gene - - 2.9 ZC4H2 Wieacker-Wolf syndrome Sequencing of all coding exons of the gene - - 0.7 ZEB2 Mowat Wilson Syndrome[cegat.de] Tooth development was delayed. The LENZ-MAJEWSKI SYNDROME 607 Fig. 1. (A) Patient age 51/2 months.[docksci.com] lips, micrognathia), failure to thrive, mental retardation, sparse hair, enamel hypoplasia, loose skin, and skeletal abnormalities.[accessanesthesiology.mhmedical.com]

  • Geleophysic Dysplasia

    dysplasia XYLT1 Desbuquois dysplasia type 2[skeldys.org] Much delayed bone age and geleophysic dysplasia were found. Targeted next-generation sequencing was used to detect genetic mutations associated with skeletal dysplasia.[ncbi.nlm.nih.gov] lips.[karger.com]

  • Autosomal-Recessive Robinow Syndrome

    dysplasia type 1 CANT1 Desbuquois dysplasia type 2 XYLT1 Desmosterolosis DHCR24 Diamond Blackfan anemia type 15 with mandibulofacial dysostosis RPS28 Diamond-Blackfan anemia[centogene.com] Her bone age was 8 years 5 months at a chronologic age of 10 years.[jpgmonline.com] […] megacephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Pectus excavatum - Proptosis / exophthalmos - Rib number anomalies - Scoliosis - Tented upper lip[csbg.cnb.csic.es]

  • Geleophysic Dysplasia 2

    dysplasia XYLT1 Desbuquois dysplasia type 2[skeldys.org] Radiological manifestations include delayed bone age, cone-shaped epiphyses, shortened long tubular bones and ovoid vertebral bodies.[orpha.net] lips with a small mouth.[jmg.bmj.com]

  • Multiple Congenital Anomalies - Hypotonia - Seizures Type 3

    […] epiphysealis hemimelica Dysplasia of head of femur, Meyer type Dysplastic cortical hyperostosis Dyssegmental dysplasia, Rolland-Desbuquois type Dyssegmental dysplasia, Silverman-Handmaker[se-atlas.de] […] ossification centers, wide and long femoral necks, and delayed bone age.[bio2rdf.org] […] lower lip vermilion Short palm Postaxial polydactyly Postural instability Neutropenia Single transverse palmar crease Downturned corners of mouth Flat face Abnormality of[mendelian.co]

  • Dubowitz Syndrome

    Rolland-Desbuquois type Isolated growth hormone deficiency type 3 Occipital horn syndrome Chromosome 10p deletion Osteogenesis imperfecta type VI Brachydactyly preaxial with[checkrare.com] Analysis of approximately 30 cases reveals prevalence of growth failure and delayed bone age, mild microcephaly, broad forehead with sparse frontal hair, telecanthus, blepharophimosis[ncbi.nlm.nih.gov] […] thin, gelatinous thin and smooth smooth, medium thick-ness; rash or superficial peeling slight thick-ening, super-ficial crack-ing & peeling, especially of hands & feet thick[jurnalpediatri.com]

  • Spondyloepiphyseal Dysplasia Type Reardon

    Desbuquois Dysplasia ; 48. gPAPP Dysplasia ; 49. Pseudodiastrophic Dysplasia ; 50.[amazon.de] One of them showed small and irregular ulnar epiphyses with delayed bone age. These findings are summed up in [Table - 2].[ijri.org] Abnormality of cardiovascular system morphology Dysarthria Cryptorchidism Cleft palate Primary amenorrhea Hypogonadotrophic hypogonadism Aminoaciduria Bimanual synkinesia Thick[mendelian.co]

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