SHORT syndrome

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FLOATING HARBOR SYNDROME - 6 REFERENCES Ala-Mello Ala Mello S et al. The first Finnish patient with the Floating-Harbor Floating Harbor syndrome: the follow-up follow up of eight years. Am J Med Genet 2004;130A:317-319. 2004;130A:317 319. Davalos IP et al. Floating-Harbor Floating Harbor syndrome. A neuropsychological approach. Genetic Counseling 1996;7:283-288. 1996;7:283 288. Feingold M. Thirty-two Thirty two year follow-up follow up of the first patient reported with the Floating-Harbor Floating Harbor syndrome. Am J Med Genet 2006;140A: 782-784. 782 784. Hersh JH et al. Changing phenotype in Floating-Harbor Floating Harbor syndrome. Am J Med Genet 1998;76:58-61. 1998;76:58 61. Lacombe D et al. Floating-Harbor Floating Harbor Syndrome: description of a further patient, review of the literature, and suggestion of autosomal dominant inheritance. Eur J Pediatr 1995;154:658-661. 1995;154:658 661. Patton MA et al. Syndrome of the month: Floating-Harbor Floating Harbor syndrome. J Med Genet 1991;28:201-204. 1991;28:201 204. Rosen AC et al. A further report on a case of Floating-Harbor Floating Harbor Syndrome in a mother and daughter. J Clin Exp Neuropsychol 1998;20:483-495. 1998;20:483 495. Wiltshire E et al. Floating-Harbor Floating Harbor syndrome complicated by tethered cord: A new association and potential contribution from growth hormone therapy. therapy. Am J Med Genet 2005;136A:81-83. 2005;136A:81 83.
BLOOM SYNDROME (Bloom 1954, German F/U) Microcephaly – mildly/small for size Malar mypoplasia Telangiectasia and erythema of face (butterfly distribution) Pigment abnormalities and atrophic scars (photosensitivity by 2 years) Increased risk of tumors: tumors: leukemia, lymphoma, adenocaricoma, adenocaricoma, squamous cell, carcinoma, and Wilm’s Wilm (at least 44% affected, mean age of onset 25 years)
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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 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 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: FLOATING HARBOR SYNDROME - 5 DIFFER
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 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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