title: Craniosynostosis, delayed closure of the fontanelle, anal, genitourinary, and skin abnormalities (CDAGS syndrome): first report in a Mexican patient and review of the literature.
abstract: BACKGROUND
  Craniosynostosis and clavicular hypoplasia, delayed closure of the fontanelle, cranial defects, anal and genitourinary abnormalities, and skin (CDAGS), is an infrequent autosomal recessive entity with only 10 cases reported; no associated gene has been identified so far.
  
  
  METHODS
  The proband is a 2-year-old Mexican female with brachycephaly, cleft palate, anal malformation with rectovestibular fistula, and clinodactyly of the third toe overlapping the second. At 4 months of age, she developed a disseminated dermatosis with erythematous scaly nummular plaques, elevated keratotic sharp borders with thin to broad flaking, hematic crusts, and keratotic surface in others. The lesions were slightly pruritic and began at the lower limbs with posterior dissemination to the upper limbs, head, and trunk; palms and soles were unaffected. A skin biopsy showed hyperkeratosis, parakeratosis, acanthosis, and perivascular inflammatory infiltration in the upper reticular dermis among other alterations. She also presented mild bilateral neurosensory hypoacusia and enamel dysplasia. Her karyotype was normal. Treatment with topical hydrating creams partially improved the skin lesions at their center, while the sharply keratotic borders remained, giving a clinical resemblance to porokeratosis.
  
  
  CONCLUSIONS
  The patient suffers from CDAGS syndrome but has normal development, and feet abnormality was described in only one other patient. The treatment with topical hydrating creams improved the skin lesions at their center, while porokeratotic characteristics persisted. CDAGS remains a diagnostic challenge; a comparison with previously reported cases is discussed. The timely detection of the syndrome will allow early treatment that may improve the condition of the patients.
authors.affiliation: Department of Dermatology, Hospital Infantil de México Federico Gómez, México, D.F, Mexico.
authors.forename: Rodrigo
authors.initials: R
authors.lastname: Pastrana-Ayala
authors.affiliation: Department of Dermatology, Hospital Infantil de México Federico Gómez, México, D.F, Mexico.
authors.forename: Gretty L
authors.initials: GL
authors.lastname: Peña-Castro
authors.affiliation: Department of Dermatology, Hospital Infantil de México Federico Gómez, México, D.F, Mexico.
authors.forename: Adriana M
authors.initials: AM
authors.lastname: Valencia-Herrera
authors.affiliation: Department of Dermatology, Hospital Infantil de México Federico Gómez, México, D.F, Mexico.
authors.forename: Carlos A
authors.initials: CA
authors.lastname: Mena-Cedillos
authors.affiliation: Department of Dermatology, Hospital General Dr. Manuel Gea González, CDMX, Mexico.
authors.forename: Sonia
authors.initials: S
authors.lastname: Toussaint-Caire
authors.affiliation: Department of Genetics, Hospital Infantil de México Federico Gómez, México, D.F, Mexico.
authors.forename: Yumiko I
authors.initials: YI
authors.lastname: Akaki-Carreño
authors.affiliation: Department of Genetics, Hospital Infantil de México Federico Gómez, México, D.F, Mexico.
authors.forename: Constanza
authors.initials: C
authors.lastname: García-Delgado
authors.affiliation: Department of Genetics, Hospital Infantil de México Federico Gómez, México, D.F, Mexico.
authors.forename: Veronica F
authors.initials: VF
authors.lastname: Morán-Barroso
authors.affiliation: Department of Dermatology, Hospital Infantil de México Federico Gómez, México, D.F, Mexico.
authors.forename: Mirna
authors.identifier: http://orcid.org/0000-0001-9132-9001
authors.initials: M
authors.lastname: Toledo-Bahena
mesh_terms: D001003:Anal Canal / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000473:pathology; D002675:Child, Preschool; D003398:Craniosynostoses / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000188:drug therapy / Q000473:pathology*; D004065:Digestive System Abnormalities / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000188:drug therapy / Q000473:pathology*; D005260:Female; D006801:Humans; D021621:Imaging, Three-Dimensional; D008800:Mexico; D017499:Porokeratosis / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000188:drug therapy / Q000473:pathology*; D012868:Skin Abnormalities / Q000473:pathology*; D063465:Skin Cream / Q000627:therapeutic use*; D014057:Tomography, X-Ray Computed