SHORT syndrome

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MOPD II - 2 Progressive bony changes and loose jointedness with disproportionate shortening of mesomelic segment Brachydactyly Bowed legs Develop café caf au lait spots May have depigmentation spots Develop dark pigment with some acanthesis around neck & axilla Far sighted, short globe Pleasant personality
MOPD II - 3 Develop intracranial aneurysm Develop truncal obesity Rarely DM Cutis mamorata seen Males cryptorchidism, cryptorchidism, hypospadias, hypospadias, micropenis Reduced life expectancy – oldest 40 years old No increase in cancer noted
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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
Page 10:
PROPORTIONAL VS. NON-PROPORTIONATE
Page 13 and 14:
Significant IUGR Relatively PROPORT
Page 15 and 16:
RUSSELL-SILVER/SILVER RUSSELL SILVE
Page 17 and 18:
RUSSELL-SILVER/SILVER RUSSELL SILVE
Page 19 and 20: Chromosome 7 Mat UPD 7 10% 7p11.2
Page 21 and 22: 7 UPD mat p11.1-p14 p11.1 p14 Mat U
Page 23 and 24: CHROMOSOME 11P15 - 40% Demethylati
Page 25 and 26: 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: MAJEWSKI (MICROCEPHALIC) OSTEODYSPL
Page 73 and 74: MOPD II - 5 Autosomal recessive wi
Page 75 and 76: MOPD II - 7 Meier-Gorlin Meier Gor
Page 77 and 78: SUMMARY 1 ALL PROPORTIONATE, IUGR,
Page 79 and 80: SUMMARY 3 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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SHORT syndrome

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