SHORT syndrome

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SUMMARY 2 ALL PROPORTIONATE, IUGR, AND POST- POST NATAL SHORT STATURE Dubowitz syndrome Relative microcephaly Eczema Sparce lateral eyebrows Telecanthus, Telecanthus, prominent epicanthal folds Russell-Silver/Silver Russell Silver/Silver-Russell Russell Normal size head (pseudohydrocephaly ( pseudohydrocephaly) Relatively underweight 50% asymmetric BA delay, late puberty Mulibrey Nanism Large, long head with triangular face with depressed bridge of nose Constructive pericarditis and heart failure with liver enlargement Yellow pigment and spots in retina Fibrosis of ovaries, fibrodysplasia of tibia
SUMMARY 3 ALL PROPORTIONATE, IUGR, AND POST- POST NATAL SHORT STATURE 3-M Short thorax with sternal deformity, transverse ribs, rib groove Broad neck, square shoulders, prominent trapezius Triangular face, full lips, hypoplastic midface, midface, long philtrum MOPD II Severe pre & postnatal growth Progressive microcephaly, microcephaly, high forehead Prominent nose, small teech, teech, squeaky voice Progressive boney dysplasia
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SMALL, SMALLER, SMALLEST- SMALLEST
Page 3 and 4:
HOW TO APPROACH SHORT STATURE? 1. P
Page 6 and 7:
NATURE’S NATURE S RULE OF THUMB O
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PROPORTIONAL VS. NON-PROPORTIONATE
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Significant IUGR Relatively PROPORT
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RUSSELL-SILVER/SILVER RUSSELL SILVE
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RUSSELL-SILVER/SILVER RUSSELL SILVE
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Chromosome 7 Mat UPD 7 10% 7p11.2
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7 UPD mat p11.1-p14 p11.1 p14 Mat U
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CHROMOSOME 11P15 - 40% Demethylati
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CHROMOSOME 17 17q24.1 17q24.1-q25 q
Page 27 and 28: RUSSELL-SILVER/SILVER RUSSELL SILVE
Page 29 and 30: MULIBREY NANISM Muscle uscle Liver
Page 31 and 32: MULIBREY NANISM- NANISM 3 Autosoma
Page 33 and 34: MULIBREY NANISM- NANISM 5 DIFFERENT
Page 35 and 36: 3 - M Miller iller McKusick cKusick
Page 37 and 38: 3 - M - (3) Miller iller McKusick c
Page 39 and 40: 3 - M - (5) Autosomal recessive, i
Page 41 and 42: 3 - M - (7) REFERENCES Hennekam RC
Page 43 and 44: SHORT SYNDROME - 2 Speech delay (3
Page 45 and 46: SHORT SYNDROME - 4 Hyperextensible
Page 47 and 48: SHORT SYNDROME - 6 DIFFERENTIAL DIA
Page 49 and 50: FLOATING HARBOR SYNDROME Boston Flo
Page 51 and 52: FLOATING HARBOR SYNDROME - 3 Delay
Page 53 and 54: FLOATING HARBOR SYNDROME - 5 DIFFER
Page 55 and 56: BLOOM SYNDROME (Bloom 1954, German
Page 57 and 58: BLOOM SYNDROME - 3 Delayed puberty
Page 59 and 60: BLOOM SYNDROME - 5 Autosomal reces
Page 61 and 62: BLOOM SYNDROME - 7 DIFFERENTIAL DIA
Page 63 and 64: DUBOWITZ SYNDROME - 1 Dubowitz 1965
Page 65 and 66: DOBOWITZ SYNDROME - 3 Small chin 8
Page 67 and 68: DOBOWITZ SYNDROME - 5 DIFFERENTIAL
Page 69 and 70: MAJEWSKI (MICROCEPHALIC) OSTEODYSPL
Page 71 and 72: MOPD II - 3 Develop intracranial a
Page 73 and 74: MOPD II - 5 Autosomal recessive wi
Page 75 and 76: MOPD II - 7 Meier-Gorlin Meier Gor
Page 77: SUMMARY 1 ALL PROPORTIONATE, IUGR,
Page 81 and 82: COMMON AND OVERLAPPING FEATURES La
Page 83 and 84: Gorlin/Smith/Jones Gorlin/Smith/Jon
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