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We report on a brother and a sister with congenital nystagmus, cone-rod dysfunction, high myopia, and aplasia cutis congenita on the midline of the scalp vertex. To our knowledge this familial oculocutaneous condition, transmitted as an autosomal recessive trait, has not been reported previously.
We describe the clinical findings in two previously unreported, unrelated cases with aplasia cutis congenita and epibulbar dermoids, similar to the cases reported by Toriello et al. [1993]. In addition, one patient had bladder exstrophy with epispadias. These cases provide further evidence for the identification of the oculo-ectodermal syndrome as a distinct entity.
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We report on a newborn black male twin with a distinctive circumferential abdominal skin defect who was identified through the Active Malformation Surveillance Program at the Brigham and Women's Hospital. There were no other malformations, and amniotic disruption was not present. Although it cannot be proven, we believe that this skin defect may have been caused by in utero encirclement of the abdomen by an umbilical cord.
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We report on a girl with maxillary hypoplasia, prominent ears, dry sparse hair, palmar and plantar keratoderma, dystrophic nails, patchy pigmented skin lesions in hands and feet and bilateral Wilms tumor. She was born with bilateral ankyloblepharon. The mother and maternal grandmother presented similar ectodermal defects. Skin biopsies of the patient and her mother proved to contain cells overexpressing p63 by immunohistochemistry. Karyotypes of the patient and her mother, and FISH studies on lymphocytes and tumor cells of the girl demonstrated a mosaic 11p15.5 deletion. These findings suggest a relationship between familial ankyloblepharon, ectodermal defects and cleft lip and palate (AEC) syndrome (Hay-Wells syndrome) and familial reticulate pigmentation of the skin. In addition the development of Wilms tumor and 11p15.5 region involvement expand the genetic relationship between these conditions and the enlarging group of genetic entities related to nephroblastoma.
A total of 27 women of a Brazilian kindred are described as having one or more signs of the Christ-Siemens-Touraine syndrome. The history and physical examination were supplemented by four sweat tests and dermatolglyphic analysis. It is suggested that this syndrome has two forms -- a major form (in males) and a minor one (in females). Two signs verified in some of our patients (mosaic patchy distribution of body hair and radial deviation of distal phalanges of index fingers) seem to be here described for the first time. A review of the literature shows a corrected sex ratio between 1 M: 1.21 F and 1 M: 2.38 F among affecteds. Since the manifestation rate of the gene among carriers was estimated at about 0.70, the actual sex ratio is expected to be not lower than 1 M: 1.40 F. Contrary to a general opinion, affected females outnumber affected males.
We describe 13 males with Christ-Siemens-Touraine syndrome from one family. History and examination were supplemented by three sweat tests and dermatolglyphic analysis. Some of the patients had two uncommon findings (onychodystrophy and excessive lacrimation), and five had an "incomplete" form of the syndrome. Four signs (distal phalanges of fingers and toes radially and tibially deviated, respectively; facial hypochromic spots; large occipitofrontal circumference) seem to be described for the first time. The segregation proportion in the sibships with at least an affected male was found to be normal (1:1) in 44 series of data (43 from the literature), where a high ascertainment bias was present (155 affected and 68 normal males).
Detection of carriers of the Christ-Siemens-Touraine syndrome on the basis of data of physical examination has been possible in about 60--70% of the cases reported in 44 papers, including a large Brazilian kindred studied by the authors. Partial data, however, showed detection values ranging from 42% to 84%.
Taurodontism is a trait that has captured the interests of evolutionists and clinical geneticists. This paper reviews the reported cases of taurodontism as an isolated trait and as a component of malformation syndromes. Because of the nature of the syndromes with which it is associated and its frequency in the general population, it is concluded that taurodontism is the result of an ectodermal defect and may be useful as an indicator of development instability.
Conditions with limb pterygia and congenital contractures were reviewed as part of a study of over 350 infants with arthrogryposis. Emphasis was placed on inheritance and variability of distinct pterygium conditions. Eleven patients with limb pterygia were recognized in our study and are described here. Seven of the 350 patients with congenital contractures had the autosomal recessively inherited multiple pterygium syndrome (Patients 1-7). Three of the seven are sibs, a fourth was born to consanguineous parents, and three were chance isolated cases. These seven had multiple joint webs, unusual finger contractures, syndactyly, rocker bottom feet, ptosis, antimongoloid slant of palpebral fissures, epicanthal folds, highly arched palate, scoliosis, and short stature. There is intrafamilial variability. Three patients from one family had a lethal multiple pterygium syndrome. Two were monozygotic twins. They had webbing and contractures of the elbows, knees, neck, and fingers, calcaneovalgus deformity of the feet, and an unusual facial appearance: hypertelorism, flat nose, antimongoloid slant of palpebral fissures, apparently low-set ears. One had a cleft palate. Internal malformations included: bilateral pulmonary hypoplasia, small heart, absence of the appendix, and attenuation of the ascending and transverse colon. One sporadic case of lethal popliteal pterygium with facial clefts was studied. Multiple anomalies included: ankyloblepharon filiforme adnatum, upslanting palpebral fissures, hypoplasia of nasal cartilages, frenula, clefts into the oropharynx lateral to the mouth, apparently low-set ears with slit-like canals, large popliteal pterygia, syndactyly with fusion of all digits in hands and feet, and hypoplastic labia.
We report on a previously apparently undescribed Puretic syndrome-like self-limited autosomal recessive disorder with onset in infancy and running its course by 11 yr in five sibs in a Kirghizian family with recurrent skin ulceration, arthralgias, fever, fistulous osteolysis around joints, oligodontia, nail dystrophy and keratitis with visual impairment or blindess in three of the five affected sibs. Affected hands and feet acquire a pseudoacromegalic appearance; fingers become clawed; involvement of growth plates around knees may lead to asymmetrical shortness with secondary scoliosis. Slow but normal healing during and after the course of the disease leaves severe cicatrization and chronic arthroses. No other organ system is involved, intellect is normal, and health and reproductive capacity are otherwise unimpaired. We propose the name Kirghizian dermatoosteolysis for this condition.
We report on a 6-year-old Brazilian girl with hypotrichosis, dental alterations, onychodysplasia, microcephaly, mental retardation, precocious puberty, abnormal palmar creases, and other findings. This appears to be the first report of this multiple congenital anomalies/mental retardation (MCA/MR) syndrome which is probably due to an autosomal recessive gene.
Focal dermal hypoplasia (FDH) is an X-linked dominantly inherited syndrome of cutaneous, skeletal, dental, ocular, and soft tissue defects. We report on a female infant with FDH with the first observation of myelomeningocele with hydrocephalus and Arnold-Chiari malformation.
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We describe a girl with the cardio-facio-cutaneous (CFC) syndrome. She presented most of the characteristics of the new multiple congenital anomalies/mental retardation (MCA/MR) syndrome: unusual facial appearance and ectodermal symptoms, that is, abnormal hair and skin, ventricular septum defect, relative macrocephaly with large ventricles and cortical "atrophy," submucous cleft palate, and umbilical hernia. Her twin brother died shortly after birth and may have had the same malformation syndrome.
A 6-yr-old girl is described who presented with failure to thrive at age 3 months and was found to have mental retardation, growth retardation, disproportionately large head, distinctive face, abnormal hair, eczema, heart defect, splenomegaly, and multiple hemangiomata. She is thought to have the cardio-facio-cutaneous syndrome and to be the first such case identified in Britain.
We describe three patients, originating from three different Italian localities, affected by the cardio-facio-cutaneous (CFC) syndrome. In addition to a varying degree of mental retardation, these patients present characteristics consisting of a peculiar face with bitemporal frontal constriction and other anomalies involving the eyes, nose, ears, hair, skin, and heart that are consistent with this diagnosis.
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