phenylephrine-hydrochloride and Corneal-Opacity

Bosma arhinia microphthalmia syndrome (Bosma syndrome)(OMIM 603457) is a congenital condition characterized by microphthalmia with coloboma, arhinia and endocrine findings in the setting of normal intelligence and brain structure. This condition is quite rare with fewer than 50 case reports and series. Although pathogenesis is presumed to be genetic, the cause remains unknown. We report an individual with Bosma syndrome who had bilateral colobomatous microphthalmia, arhinia, high arched palate, mild ear malformations, and hypogonadotropic hypogonadism requiring growth hormone treatment in childhood, and normal intelligence. Clinical evaluation was significant for a geometrically abnormal aorta with effacement of the sinotubular ridge, a finding not previously reported in this condition. An MRI revealed absent olfactory bulbs. Suggested criteria for diagnosis of Bosma should include arhinia, hypoplastic maxilla, normal cognition, and hypogonadotropic hypogonadism in males.

Topics: Abnormalities, Multiple; Adult; Brain Diseases, Metabolic, Inborn; Choanal Atresia; Coloboma; Corneal Opacity; Facial Bones; Humans; Intellectual Disability; Magnetic Resonance Imaging; Male; Microcephaly; Microphthalmos; Nose; Olfactory Bulb

A 5-year-old boy with Mietens' syndrome had bilateral microsclerocornea, hypoplastic nose, bilaterally absent radii, elbow flexion contractures, absent left fibula, growth retardation, and normal intelligence. Both corneas measured 9.25 mm in diameter and showed diffuse anterior stromal opacification with focal nebular densities and extensive superficial vascularization. Penetrating keratoplasty in one eye remained clear and compact two years postoperatively and visual acuity improved. Histopathologically, vascularized collagenous tissue occupied the anterior one fourth of the corneal stroma and contained bundles of collagen fibrils 75 to 90 nm in diameter. Descemet's membrane showed abnormal anterior lamination.

Topics: Abnormalities, Multiple; Child, Preschool; Cornea; Corneal Opacity; Corneal Transplantation; Fibula; Humans; Male; Microscopy, Electron; Nose; Radius; Sclera; Transplantation, Homologous

A report is given on two sisters with arhinia, hypertelorism, Peters' anomaly and deformities of the maxilla. The lacrimal sacs in both patients were extirpated because of recurrent dacryoadenitis due to bilateral aplasia of the nasolacrimal ducts. One eye showing Peters' anomaly with microphthalmus was enucleated in the elder patient 12 years ago. Differential diagnosis includes frontonasal dysplasia and the different types of holoprosencephaly-syndromes. Probably this new malformation syndrome is a recessive inherited.

Topics: Abnormalities, Multiple; Adolescent; Corneal Opacity; Diagnosis, Differential; Female; Humans; Hypertelorism; Maxilla; Microphthalmos; Nose; Palate; Pedigree; Syndrome