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Genetic Counseling
Bartsocas-Papas Syndrome
Neu laxova
Robert's Syndrome
Meckel Gruber Syndrome
Golden har
Lethal Pterygium syndrome
Turner's Syndrome
Morquio Syndrome
Ellis-van Creveld syndrome
Femoral hypoplasia
  Morquio Syndrome  
Mucopolysaccharidoses 4
By 2 - 4 years patients with coarse facies, fine corneal opacities, enamel hypoplasia, mandibular prognathism, short neck, broad chest, pectus carinatum and aortic incompetence. Mixed picture of joint contractures and joint laxity with camptodactyly, joint restriction, progressive hip degenration and dislocation, ligamentous laxity at wrists, knock knees, flat feet. Mental development usually normal. Surgical fixation needed for odontoid hypoplasia.
Types A - C; severity correlates with residual enzyme activity. Keratan sulphate excretion in all types. Type A (MIM 253000) is the severe type; type B (MIM 253010) has late onset; type C has mild manifestations.
  Differential Diagnosis  
  Distinguish types B & C from Sanfilippo disease (3310) by lack of mental deterioration.  
  Spondyloepiphyseal dysplasia with platyspondyly and anterior tonguing and beaking of vertebral bodies, odontoid hypoplasia, flattened epiphyses, irregular metaphyses, horizontal ribs, overconstricted iliac bodies, irregular acetabulae, coxa valga, large cranial vaullt; J-shaped sella.  
  Autosomal recessive. Several point mutations and deletions in the GALNS gene  
Autosomal recessive
Chromosome 16
Arm q
Death in infancy / childhood
Hydrops fetalis +/- ascites / pleural effusion
Abnormal posture / gait
Short stature - postnatal
Short trunk / neck
Increased body hair / hypertrichosis
Thick skin
Coarse face
Prominent premaxillary region
Corneal clouding / opacity / anterior embryotoxon
Anteverted nostrils
Large mouth / macrostoma / lateral cleft
Development defect of enamel
Abnormal tooth position / malocclusion / open bite
Deafness - conductive
Atlanto - axial instability / odontoid hypoplasia
Pectus carinatum (pigeon chest)
Umbilical & Inguinal hernia
Thoracolumbar general kyphosis
Accentured lumbar lordosis
Flat foot / pes planus
Storage liver disease
Disorder of heteroglycan metabolism (incl. MPS)
Dysostosis multiplex (like MPS)
Osteopenia / diffuse osteoporosis / coarse bone trabec
Delayed skeletal maturation
Cupped metaphyses
Deformed / irregular epiphyses
Hyperostosis / thickened / sclerotic calvarium
Abnormal rib structure using fusion
Mild platyspondyly
Anterior beaking / protrusion of vertebral bodies
Central anterior spurs
Coxa vulga
Dislocated hip
Other abnormal ulna
Broad femoral neck
Small carporal bones
Proximal pointing of metacarpals
All metacarpals short / deformed