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896 Possible Causes for prenatal and postnatal, Short Stature, Small Hand

  • Sanjad-Sakati Syndrome

    Sanjad Sakati Syndrome /Dysmorphism/ short stature 30 Days of Hope: Day Nine #NICUphotography, #preemie, #NICU, #placentaprevia, #34weeks, #preemiesupportandawareness, #capturinghopes[] It is characterized by congenital hypoparathyroidism, severe prenatal and postnatal growth retardation, and distinct facial dysmorphism.[] All patients had severe intrauterine growth retardation, short stature, small hands and feet, blue sclera, deep-set eyes, microcephaly, persistent hypocalcaemia and hypoparathyroidism[]

  • Kenny-Caffey Syndrome Type 1

    Short and tall stature: a new paradigm emerges. Nat rev endocrinol. 2015;11:735–46.[] […] and postnatal growth retardation, short stature, cortical thickening and medullary stenosis of the long bones, absent diploic space in the skull bones, hypocalcemia due to[] hands and feet, hypocalcaemia, hypoparathyroidism, radiologic evidence of cortical thickening of long bones with medullary stenosis, and absent diploic space in the skull[]

  • Rothmund Thomson Syndrome

    Targeted next-generation sequencing (NGS) using a custom panel consisting of 705 short-stature-related genes was performed for the probands.[] Growth and development: A large percentage of individuals with RTS experience abnormally slow growth before and after birth (prenatal and postnatal growth retardation), leading[] It is primarily a clinical diagnosis with manifestations that include poikiloderma, short stature, sparse hair, juvenile cataracts, small hands and feet, bone defects, photosensitivity[]

  • Cardiodysrhythmic Potassium-Sensitive Periodic Paralysis

    stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly.[] Her prenatal, natal and postnatal history was unremarkable, and her school performance was high. There was a close consanguinity between the parents.[] hands and feet, and at least two of the following: Low-set ears Widely spaced eyes Small lower jaw (mandible) Fifth-digit clinodactyly (curved pinky finger) Syndactyly or[]

  • Helsmoortel-van der Aa Syndrome

    Brain abnormalities, behavioral problems, sleep disturbance, epilepsy, hypotonia, visual problems, congenital heart defects, gastrointestinal problems, short stature, and[] When used heavily during pregnancy, alcohol causes abnormalities in 3 main categories: (1) dysmorphic features, which originate in the period of organogenesis; (2) prenatal[] hands and ears, and that has been seen in one family to date.[]

  • Prader-Willi Syndrome

    Clinical manifestations include mental retardation; muscular hypotonia; hyperphagia; obesity; short stature; hypogonadism; strabismus; and hypersomnolence.[] Asterisks: P P At prenatal stages E12.5, E14.5 and E18.5, the mutant embryos and placenta were of normal size (data not shown).[] hands and feet, mild dysmorphology, and behavior problems which can be severe.[]

  • 3M Syndrome Type 1

    stature syndrome) AR 9 9 ORC4 Meier-Gorlin syndrome (Ear-patella-short stature syndrome) AR 22 6 ORC6 Meier-Gorlin syndrome (Ear-patella-short stature syndrome) AR 7 6 OTX2[] Abstract The 3-M syndrome is a clinically recognizable disorder characterized by prenatal and postnatal growth retardation and a spectrum of consistent minor anomalies.[] […] left small hand.[]

  • Russell-Silver Syndrome

    Abstract A family is described with a syndrome of short stature, abnormal pigmentation of the skin and mild facial dysmorphism.[] Russell-Silver syndrome (RSS) should be suspected in patients with prenatal and postnatal growth retardation.[] We report a small series of patients presenting with a range of hand anomalies, some of which have not been previously reported in association with this condition.[]

  • Cornelia De Lange Syndrome

    In its classical form, it is characterised by distinctive facial features, intra-uterine growth retardation, short stature, developmental delay, and anomalies in multiple[] It is characterized by intellectual disability (mild to severe), distinctive facial features, prenatal and postnatal growth retardation, and hirsutism.[] There is a lobster-claw deformity of the hand, small hands and feet with small and tapered digits, syndactyly between the second and third toes, proximal insertion of the[]

  • Goldberg-Shprintzen Syndrome

    Key overlapping features with Baraitser-Winter syndrome include intellectual disability, microcephaly, congenital ptosis, high-arched eyebrows, ocular coloboma and short stature[] […] involves prenatal microcephaly and multiple congenital malformations.[] stature and learning disability.[]

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