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127 Possible Causes for Congenital Facial Anomaly, Sloping Shoulders

  • Cleidocranial Dysplasia

    Cleidocranial dysplasia (CCD) is a rare congenital disorder characterized by skeletal and dental anomalies.[ncbi.nlm.nih.gov] shoulders that can be apposed at the midline, short stature, mid-face hypoplasia, multiple supernumerary teeth, and skeletal anomalies.[ncbi.nlm.nih.gov] Neurological examinations revealed sloping shoulders, weakness, and atrophy in the proximal areas of the arms, shoulder girdle muscles, and legs.[ncbi.nlm.nih.gov]

  • CHARGE Syndrome

    Kabuki syndrome is a rare genetic disorder characterized by intellectual disability and multiple congenital anomalies, including short stature, peculiar facial appearance,[ncbi.nlm.nih.gov] Although certain clinical issues (scapular winging, sloping shoulder, Sprengel's deformity, kyphosis and scoliosis) which could be related to abnormalities in musculoskeletal[ncbi.nlm.nih.gov] The patient had multi-organ anomalies: right facial palsy, a left short, wide ear with a small lobe, congenital heart defects, such as ASD and PDA, left renal atresia, seizure[ncbi.nlm.nih.gov]

  • Craniofrontonasal Dysplasia

    […] diaphragmatic hernia Sprengel anomaly Brachydactyly Hand polydactyly Intellectual disability Muscular hypotonia Plagiocephaly Craniosynostosis Sandal gap Frontal bossing[familydiagnosis.com] shoulders Rounded shoulders Rounded, sloping shoulders Sloping shoulders [ more ] 0200021 Facial asymmetry Asymmetry of face Crooked face Unsymmetrical face [ more ] 0000324[rarediseases.info.nih.gov] Clinical Features of Craniofrontonasal dysplasia : Hypospadias Shawl scrotum Abnormality of the dentition Oral cleft High palate Brachycephaly Microcephaly Hypertelorism Facial[familydiagnosis.com]

  • Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome

    HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER Congenital Hydronephrosis, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental[rgd.mcw.edu] shoulders, aged appearance of the hands and feet and facial dysmorphism (beaked nose and severe retrognathia).[orpha.net] shoulders ; Hypergonadotropic hypogonadism ; Intellectual disability ; Lipodystrophy ; Mitral regurgitation ; Ptosis ; Retrognathia ; Short clavicles Associated Genes LMNA[mousephenotype.org]

  • Trisomy 20

    We describe a female infant with multiple congenital anomalies and mental retardation, pre- and postnatal growth failure, microcephaly, unusual facial appearance, and minor[ncbi.nlm.nih.gov] Recurring features include; spinal abnormalities (including spinal stenosis, vertebral fusion, and kyphosis), hypotonia, lifelong constipation, sloped shoulders, and significant[ncbi.nlm.nih.gov] Abstract A child with a facial dysmorphy and congenital malformations, showed in the chromosome analysis a partial trisomy of chromosome 20.[ncbi.nlm.nih.gov]

  • Multiple Congenital Anomalies

    We present a unique 11-year-old girl showing clinical features of Rett-related disorder with distinctive facial features and multiple congenital anomalies including ocular[ncbi.nlm.nih.gov] shoulders, nipple anomalies).[leader.pubs.asha.org] The child presented here had developmental delay, distinctive facial features, multiple congenital anomalies, and 7q36.1q36.2 triplication.[ncbi.nlm.nih.gov]

  • Frontonasal Dysplasia

    In view of the pre-existing mental retardation and the multiple congenital facial anomalies, further surgical intervention for the intracranial lipoma was refused by the child's[indianpediatrics.net] shoulder, widely and asymmetrically placed nipple Click here to view Figure 1b: Shoulders were rounded and sloping and could be proximated anteriorly close to the midline[mjdrdypu.org] Additional case studies will assist in classifying the congenital craniofacial anomalies and identifying associated genetic mutations. Correspondence: Travis T.[doi.org]

  • Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome

    anomalies Hereditary motor and sensory neuropathy type 5 Congenital muscular dystrophy Nevus comedonicus syndrome Morgagni-Stewart-Morel syndrome Myoclonic astatic epilepsy[checkrare.com] Micrognathia and sloping shoulders may mimic atypical progeroid phenotype.[medcraveonline.com] He has a normal occipitofrontal head circumference (OFC) of 54 cm, normal facial appearance, sloping shoulders, diffuse obesity, gyne- comastia, normal hands and feet, long[docslide.com.br]

  • Hypertelorism

    (CT) in individuals affected by midline facial defects with hypertelorism (MFDH) isolated or associated with multiple congenital anomalies (MCA).[ncbi.nlm.nih.gov] shoulder girdle deformity, and longitudinal ridging of nails in association with various truncal and extremity anomalies.[ncbi.nlm.nih.gov] Among the 14 patients from Group A, there were 7 with distinct pictures of multiple congenital anomalies.[ncbi.nlm.nih.gov]

  • Coxa Valga

    Congenital anomalies can include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems.[ncbi.nlm.nih.gov] Skeletal defects include long neck, narrow thorax, down-sloping shoulders, and prominent elbow joints (Wiedemann et al. 1993).[rrnursingschool.biz] […] characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth and additional digits, developmental or cognitive delay of varying degree, distinctive facial[ncbi.nlm.nih.gov]

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