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309 Possible Causes for Delayed Bone Age, Macrocephaly, Round Face

  • Mucopolysaccharidosis

    The patient had severe infantile global neurodevelopmental delays, macrocephaly with a prominent forehead, coarse facial features with clear corneas, chronic congestion with[] Hirsutism, macrocephaly, and limited joint movements. Four types, each with a different enzyme deficiency, are recognized: a, b, c and d.[] Macrocephaly develops during infancy and infants initially grow at normal or above average rates.[]

  • Aarskog-Scott Syndrome

    Individuals with the Aarskog syndrome have shortness of stature, round face, hypertelorism, short fingers and hands, and flat feet; males have a shawl scrotum.[] The main findings are asynchronic and delayed bone age, shortened long tubular bones with wide metaphyses, brachyphalangy, hypoplasia of the middle phalanges of the fifth[] Abstract The Aarskog syndrome or facio-genital dysplasia (FGDY, MIM No. 305400) is an X-linked condition characterized by short stature, macrocephaly, facial, genital and[]

  • Zellweger Syndrome

    face Circular face Round facial appearance Round facial shape [ more ] 0000311 Single transverse palmar crease 0000954 Subependymal cysts 0002416 Talipes equinovarus Club[] Macrocephaly or microcephaly, high arched palate, micrognathia and redundant neck skin folds may be present.[] Macrocephaly or microcephaly, a high-arched palate, protruding tongue or micrognathia, and redundant neck skin folds may be present.[]

  • Mucopolysaccharidosis 1

    , angulation of the distal end of the radius and ulna, narrowing of the proximal metacarpals, delayed carpal bone age, and hip abnormalities as a constriction above the acetabulum[] Symptoms include, macrocephaly, excessive accumulation of fluid in the brain, hepatosplenomegaly, sleep apnea, cornea clouding, spinal cord compression and cognitive impairment[] Some symptoms (hernia, macrocephaly, respiratory infections, and limited hip abduction) become apparent early in infancy but the complete clinical picture develops during[]

  • Neuhauser Syndrome

    The patients have a peculiar face by specific craniofacial anomalies: round face, wide prominent forehead, hypertelorism, broad nasal bridge, bulbous nose, wide philtrum nasolabial[] The radiological bone age was found to be delayed.[] We report two sisters with Neuhäuser [megalocornea, macrocephaly, mental and motor retardation MMMM] syndrome.[]

  • Hypertrichotic Osteochondrodysplasia

    face-developmental delay syndrome Congenital joint dislocations Congenital knee dislocation Congenital limb malformation Congenital muscular dystrophy with cerebellar involvement[] bone age; [Skull]; Widened posterior fossa; Enlarged sella; [Spine]; Platyspondyly; Ovoid-shaped vertebral bodies (childhood); Cuboid-shaped vertebral bodies (post-puberty[] Clinical description Dysmorphic features include macrocephaly and a coarse facial appearance with thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted[]

  • Spondyloepimetaphyseal Dysplasia Type SPONASTRIME

    face-developmental delay syndrome Congenital joint dislocations Congenital knee dislocation Congenital limb malformation Congenital muscular dystrophy with cerebellar involvement[] bone age.[] […] spondyloepimetaphyseal dysplasia disease characterized by short-limbed short stature (more pronounced in lower limbs) associated with characterisitic facial dysmorphism (i.e. relative macrocephaly[]

  • Sotos Syndrome

    Infants have a round face with prominent forehead and small chin.[] The phenotype includes delayed bone age, microcephaly, seizures, and failure to thrive.[] Of 261 children with global developmental delay, 18 (7%) had documented macrocephaly.[]

  • Lenz-Majewski Syndrome

    , bluish discoloration of the whites of the eyes (blue sclera), and a triangular-shaped face with a prematurely-aged appearance.[] Tooth development was delayed. The LENZ-MAJEWSKI SYNDROME 607 Fig. 1. (A) Patient age 51/2 months.[] Affiliated tissues include bone , skin and tongue , and related phenotypes are macrocephaly and hypertelorism OMIM : 57 Lenz-Majewski hyperostotic dwarfism is a rare condition[]

  • Iatrogenic Cushing's Disease

    Essential finding at presentation were an obese infant, full round face, length 62cm ( 5 th percentile), BMI 36.7kg/m 2 ( 95 th percentile); BP 100/60mmHg.[] The indica ted treatment was topical with hydrocortisone acetate and delayed bone age (BA) (6 months BA for 1 year 3 months in chronological age).[] Initial evaluation on arrival revealed multiple congenital anomalies including solitary kidney, atrial septal defect of the heart, rib anomalies, macrocephaly, developmental[]

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