title: Severe short stature, profound microcephaly, developmental brain abnormality, agenesis of optic disc and retinal vessels, and bilateral cryptorchidism in two male siblings: a new lethal recessively inherited syndrome.
authors.affiliation: Departments of aMedical Genetics bRadiodiagnosis, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
authors.forename: Divya
authors.initials: D
authors.lastname: Agarwal
authors.forename: Joshi
authors.initials: J
authors.lastname: Stephen
authors.forename: Rajendra V
authors.initials: RV
authors.lastname: Phadke
authors.forename: Shubha R
authors.initials: SR
authors.lastname: Phadke
mesh_terms: D001921:Brain / Q000002:abnormalities* / Q000000981:diagnostic imaging; D002675:Child, Preschool; D003456:Cryptorchidism / Q000150:complications*; D002658:Developmental Disabilities / Q000000981:diagnostic imaging / Q000235:genetics; D004392:Dwarfism / Q000150:complications*; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D040582:Inheritance Patterns / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000150:complications* / Q000000981:diagnostic imaging; D009898:Optic Disk / Q000002:abnormalities*; D012171:Retinal Vessels / Q000002:abnormalities*; D035781:Siblings; D013577:Syndrome; D014057:Tomography, X-Ray Computed