Moebius Sequence Sixth and Seventh Nerve Palsy The basic features of Moebius sequence are mask-like facies with sixth and seventh cranial nerve palsy, usually bilaterally. Minimal diagnostic criteria include congenital…
Osteopetrosis: Autosomal Recessive—Lethal (Infantile Malignant Osteopetrosis) Dense, Thick, Fragile Bone; Secondary Pancytopenia; Cranial Nerve Compression More than 100 cases of this genetically heterogeneous and commonly lethal group of disorders have…
Fragile X Syndrome (FXS, Martin-Bell Syndrome, Marker X Syndrome) Intellectual Disability, Mild Connective Tissue Dysplasia, Macroorchidism In 1943, Martin and Bell published the first pedigree documenting an X-linked form of…
Smith-Lemli-Opitz Syndrome Anteverted Nostrils, Ptosis of Eyelids, or Both; Syndactyly of Second and Third Toes; Hypospadias and Cryptorchidism in Male Four patients with this disorder were described by Smith and…
Progeria Syndrome (Hutchinson-Gilford Syndrome) Early Aging with Alopecia, Atrophy of Subcutaneous Fat, Skeletal Hypoplasia and Dysplasia The following entry was recorded in the St. James Gazette in 1754: “March 19,…
Chromosomal Abnormality Syndromes Identifiable on Routine Karyotype Down Syndrome (Trisomy 21 Syndrome)Hypotonia, Flat Facies, Slanted Palpebral Fissures, Small Ears Down’s report in 1866 on the ethnic classification of idiots stated…
Cornelia de Lange syndrome (Brachmann–De Lange Syndrome) Synophrys, Thin Downturning Upper Lip, Micromelia The syndrome was originally reported in 1933 by Cornelia de Lange, although Brachmann described a child with…
1p36 Deletion Syndrome (Monosomy 1p36 Deletion Syndrome) Large Anterior Fontanel, Deep-Set Eyes, Pointed Chin First delineated in 1997 as a recognizable pattern of malformation, monosomy 1p36 is the most commonly…
Background A postpartum human papillomavirus vaccination program was locally implemented to address low initiation rates among young adults. Within 20 months, the program achieved high vaccine initiation and series completion…
Background Complex lower urinary tract injury resulting from hysterectomy is a rare but highly morbid complication. Although intraoperative recognition reduces the risk of serious sequelae, observational studies have shown that…
