MULIBREY NANISM SYNDROME

References

Gastrointestinal
Hepatomegaly
Craniofacial
Depressed nasal bridge
Dolichocephaly with J-shaped sella turcica
Edema of vocal cords
Missing or small frontal and, or sphenoidal sinuses
Relatively small tongue
Triangular facies with frontal bossing
Growth
Adult height ranges from 136 to 161 cm for males and from 126 to 151 cm for females
Delayed puberty
Hands and feet appear relatively large in relation to body
Intrauterine growth deficiency
Performance
High-pitched voice
Mental retardation
Metabolic Abnormality
Humoral imunodeficiency consisting of disturbed antibody response and impaired opsonization
Hyperammonemia
Hypoadrenocorticism
Neurologic Abnormality
Large cerebral ventricles
Intrauterine development
Hydrops fetalis
Endocrine and/or Exocrine
Hypothyroidism
Ovarian tumor
Skeletal
Cortical thickening of long bones
Highset hyoid bones
Variable fibrous dysplasia especially in tibia
Genitourinary
Wilms tumor
Hematologic
Eosinophilia
Ocular
Coloboma of iris
Strabismus
Oral
Choroidal hypoplasia
Decreased retinal pigmentation with dispersion and clusters of pigment and yellowish dots in the midperipheral region
Dental abnormalities
Dysplastic enamel
Hypodontia
Skin
Cutaneous nevi