Twenty-four cases of the EEC syndrome: Clinical presentation and management. J Med Genet. 1995;32:716–23. [ncbi.nlm.nih.gov]

Presentation of a case and orthopedic treatment]. Frediani P, Zaltron D. Frediani P, et al. Chir Organi Mov. 1980 Sep-Oct;66(5):431-8. Chir Organi Mov. 1980. PMID: 7344850 Italian. No abstract available. [pubmed.ncbi.nlm.nih.gov]

Brazilian patients (11 sporadic and 9 familial cases) with the ectrodactyly, ectodermal dysplasia, clefting… The EEC syndrome (ectrodactyly or lobster-claw deformity, ectodermal dysplasia, and cleft lip and palate) is a rare disorder with… Eight cases are presented [semanticscholar.org]

It is a complex pleiotropic multiple congenital anomaly/dysplasia syndrome in which any one of the stigmata or cardinal signs are present in variable expression. [journals.lww.com]

• Inguinal Hernia

  The male had a small penis and large inguinal hernias. Both had bilateral simian creases. A high axial triradius and simple arches on all digits were found. Both children died in early infancy. [omim.org]

• Hearing Impairment

  Other neurological problems can include severe feeding problems, seizures, or visual or hearing impairment. They may also experience short pauses in breathing during sleep (sleep apnea). [medlineplus.gov]

  Additional manifestations include hearing impair- ment and urinary tract anomalies. 1 Our aim was to describe a rare case of siblings affected by EEC syndrome presenting normal parents. [redalyc.org]

• Alopecia

  Hypoplastic breast + + Ankyloblepharon + Geniturinary defects + + Hypohydrosis + Lacrimal duct obstruction + + + + Skin erosion + + Alopecia + + + + Holoprosencephaly + Table 1 Comparative fndings between our case and p63 associated conditions and split [redalyc.org]

• Lacrimation

  […] associated with lacrimal gland dysfunction. [ncbi.nlm.nih.gov]

  Presence of lacrimal fistula has only been described in 2 prior cases,8,9 and in both, the fistula exited to the lower eyelid skin. The described patient is unique in that the lacrimal fistula communicated to the caruncle. [docksci.com]

  […] had findings of ectodermal dysplasia in the form of hair, nail and teeth involvement along with lacrimal duct abnormality. [ijdvl.com]

  Lacrimal duct obstruction and genitourinary defects are also common findings, 2,3 and these features were not present in our patient. [redalyc.org]

• Blepharitis

  The features were hypertelorism [Fig. 2], entropion, punctal scarring, hypotrichiasis, absent meibomian glands [Fig. 3] and blepharitis. Child had photophobia, showing papillary conjunctivitis, conjunctival pigmentation and dryness. [journals.lww.com]

  The features were hypertelorism [Figure - 2], entropion, punctal scarring, hypotrichiasis, absent meibomian glands [Figure - 3] and blepharitis. Child had photophobia, showing papillary conjunctivitis, conjunctival pigmentation and dryness. [ijo.in]

  […] hydronephrosis), conductive or sensorineural hearing loss, choanal atresia, mammary gland or nipple hypoplasia, ophthalmological findings (i.e. nasolacrimal duct [NLD] obstruction, lower lid punctal stenosis, photophobia, corneal ulcerations, keratitis, blepharitis [ncbi.nlm.nih.gov]

• Hypertelorism

  The features were hypertelorism [Fig. 2], entropion, punctal scarring, hypotrichiasis, absent meibomian glands [Fig. 3] and blepharitis. Child had photophobia, showing papillary conjunctivitis, conjunctival pigmentation and dryness. [journals.lww.com]

  Other facial features include a large or bulging forehead; wide-set eyes (ocular hypertelorism); a short, upturned nose; and a wide mouth with a large tongue (macroglossia). [medlineplus.gov]

  The features were hypertelorism [Figure - 2], entropion, punctal scarring, hypotrichiasis, absent meibomian glands [Figure - 3] and blepharitis. Child had photophobia, showing papillary conjunctivitis, conjunctival pigmentation and dryness. [ijo.in]

• Short Neck

  Affected individuals can have other distinctive features, including larger than normal gaps between the bones of the skull in infants (fontanelles), a short neck, low-set ears, and an inability to secrete tears (alacrima). [medlineplus.gov]

  At physi- cal examination, it was verified the presence of: bilateral cleft lip and complete cleft palate (involving hard and soft palate), micrognathia, abnormal low-set ears, short neck, and limb defects affecting the central ray of the hands and feet [redalyc.org]

• Cryptorchidism

  […] eruption of teeth, a narrow passage between the nose and throat (choanal stenosis), underdeveloped nipples, abnormal nails of the fingers and toes, extra fingers and/or toes, a clubfoot, a short penis, failure of the testicles to descent into the scrotum (cryptorchidism [rarediseases.org]

Although the patient was receiving metformin treatment for insulin resistance, she had not undergone any prior workup to identify a unifying syndromic cause for her physical and biochemical findings. [mdedge.com]

Presentation of a case and orthopedic treatment]. Frediani P, Zaltron D. Frediani P, et al. Chir Organi Mov. 1980 Sep-Oct;66(5):431-8. Chir Organi Mov. 1980. PMID: 7344850 Italian. No abstract available. [pubmed.ncbi.nlm.nih.gov]

oral implantology, supportive treatment, and ethics, legal, and practical matters. [books.google.com]

Other treatment is symptomatic and supportive. [rarediseases.org]

To date, there is no approved medication for the treatment of DDS and there is no randomized controlled trial on the psychotherapeutic treatment of DDS [ 3 ]. [bmcpsychiatry.biomedcentral.com]

(November 2021) Patients with this can have hydronephrosis, seizures, visual impairments, or alacrima.[5] Sleep apnea may also be present, Prognosis[edit] Most children with condition die before 2 years of age.[6]: 306  With it being estimated that 50% [en.wikipedia.org]

Miller Classification and prognosis of inflammatory muscle disease Rheum Dis Clin North Am, 20 (1994), pp. 811-826 [8.] C. Campos Fernández, J. Calvo Catalá, M.I. González-Cruz Cervellera, J.V. Parra Ródenas, M. [archbronconeumol.org]

Etiology of Periodontal Diseases (Part 4) provides a more comprehensive background in periodontal anatomy, physiology, and pathogenesis. [books.google.com]

[…] that is characterized by thick, hyperpigmented, and verrucous plaques. 2,3 Although most common in symmetric distribution on flexural and intertriginous areas, AN also may involve mucosal surfaces. 4 Acanthosis nigricans is associated with multiple etiologic [mdedge.com]

Concerning the etiology of DDS, it has been found that harm-avoidant temperament was associated with DDS in a cross-sectional study [ 12 ]. [bmcpsychiatry.biomedcentral.com]

Epidemiology underpinning research in the aetiology of orofacial clefts. Orthod Craniofac Res. 2007;10(3):114–120 9 Bell JC, Raynes-Greenow C, Bower C, Turner RM, Roberts CL, Nassar N. [colombiamedica.univalle.edu.co]

Epidemiology[edit] The exact prevalence of Schinzel-Giedion syndrome is unknown. [en.wikipedia.org]

J Clin Psychiatry 47:605–606 PubMed Google Scholar Joseph AB (1994) Observations on the epidemiology of the delusional misidentification syndromes in the Boston metropolitan area: April 1983–June 1984. [link.springer.com]

In Germany, its administrative prevalence is far below the threshold for orphan diseases, although according to epidemiological surveys the diagnosis should be comparable frequent as anorexia nervosa for instance. [bmcpsychiatry.biomedcentral.com]

Selected disease categories in the MENA are discussed starting with a review of their epidemiology in the different MENA countries, followed by an examination of the known genetic factors that have been reported in the disease discussed, whether inside [explore.openaire.eu]

Gain fresh perspectives and up-to-date insights from the world’s leading authorities on the pathophysiology, diagnosis, and management of stroke. [books.google.com]

Report of three cases with further delineation of the clinical, pathophysiological, and genetic aspects of the disorder. Medicine (Baltimore). 1973;52(1):53-71. [malattierare.regione.veneto.it]

Stay up to date on hot topics such as mechanisms of action of commonly used drugs, neuronal angiogenesis and stem cells, basic mechanisms of spasm and hemorrhage, prevention of stroke, genetics/predisposing risk factors, and much more. [books.google.com]

His research aims at understanding the molecular basis of their pathogenicity and using this knowledge in practical ways to prevent disease. [vetmed.auburn.edu]

I also think that this event will provide an important platform for WHO and stakeholders to follow up on the UN High-level Meeting on Noncommunicable Disease Prevention and Control. [who.int]

Anti-convulsant drugs such as carbamazepine, valproic acid, phenobarbital, clonazepam, ethusuximide, primidone, phenytoin, corticotropin, and corticosteroid drugs are being used to help prevent and control seizures associated with Epilepsy. [rarediseases.org]