1/101. Graft-like plantar lesion secondary to possible dorsal-to-ventral cutaneous transposition.We describe a 3-year-old male patient with an unusual congenital lesion on the plantar surface of the left foot that had been asymptomatic until shortly before presentation. Histologic examination of the plaque revealed a thinner keratin layer, increased pigmentation, and a pilosebaceous unit with a visible vellus hair. We tentatively hypothesize from this single case that a disruption in the normal sequence of events of morphogenesis, and particularly in dorsal-to-ventral orientation, may have occurred in this patient.- - - - - - - - - - ranking = 1keywords = congenita (Clic here for more details about this article) |
2/101. anterior chamber eye anomalies, redundant skin and syndactyly--a new syndrome associated with breakpoints at 2q37.2 and 7q36.3.We report a 34-year-old female with a de novo balanced reciprocal translocation involving 2q37.2 and 7q36.3. She has a unique combination of multiple congenital malformations that include redundant skin, complete tissue syndactyly of the hands and feet, hirsutism, polycystic ovaries and bilateral anterior chamber eye anomalies. Her son has inherited the unbalanced product (46,XY,der(2) t(2;7)(q37.2;q36.3). He has a similar clinical picture with additional features including complex congenital heart disease, post axial polydactyly, hypotonia and global developmental delay. The breakpoints may indicate the location of the gene(s) responsible for this unique combination of features.- - - - - - - - - - ranking = 2keywords = congenita (Clic here for more details about this article) |
3/101. Disorganisation: a case with popliteal pterygia and placental-skin appendages.We report a girl with congenital anomalies which include amniotic rings and scars, cleft lip and palate, thumb abnormalities, hexadactyly of feet, severe flexion deformities of legs and unusual finger-like appendages which were attached to the placenta. We suggest this patient represents another example of human homologue for the mouse mutant disorganisation (Ds).- - - - - - - - - - ranking = 1keywords = congenita (Clic here for more details about this article) |
4/101. Bart syndrome: the congenital localized absence of skin may follow the lines of Blaschko. Report of six cases.Three cutaneous manifestations are characteristic of Bart syndrome: congenital localized absence of skin (CLAS), mucocutaneous blistering, and nail abnormalities. Six cases of Bart syndrome are herein reported. Localized absence of skin is present at birth, particularly on the anterior aspects of the lower extremities and dorsa of the feet. Physical trauma in utero has been proposed as a mechanism to explain the denuded areas on the limbs. The recurrent, highly similar pattern of the congenital defect in regard to location and clinical appearance in our patients and in most of the reported cases strongly suggests that trauma is too simplistic an explanation. Because of the observed bilateral and symmetric distribution of denuded areas in an S-shaped broad band, their sharply demarcated borders, the involvement of the toe webs, and the frequent similar involvement of the soles, we suggest that congenital localized absence of skin in Bart syndrome may follow the lines of Blaschko.- - - - - - - - - - ranking = 7keywords = congenita (Clic here for more details about this article) |
5/101. Brachycephaly, cutis aplasia congenita, blue sclerae, hypertelorism, polydactyly, hypoplastic nipples, failure to thrive, and developmental delay: a distinct autosomal recessive syndrome?We report a 6-year-old male of first cousin parents with the unique constellation of frontal bossing with brachycephaly, cutis aplasia congenita, blue sclerae, hypertelorism, hypoplastic nipples, rudimentary unilateral post-axial polydactyly of the hand, failure to thrive, mild to moderate developmental delay and sociable personality. Knoblock-Layer syndrome and smith-lemli-opitz syndrome were considered in the differential diagnosis and were excluded. No similar cases were found in LDDB or other databases.- - - - - - - - - - ranking = 5keywords = congenita (Clic here for more details about this article) |
6/101. Junctional epidermolysis bullosa associated with congenital localized absence of skin, and pyloric atresia in two newborn siblings.Congenital localized absence of the skin has been observed in various subsets of inherited epidermolysis bullosa (EB). Pyloric atresia is a rare disorder that has been seen in association with EB. Ureterovesical junction obstruction is a condition unique to the association between pyloric atresia and EB. The authors describe 2 premature male siblings with pyloric atresia, congenital localized absence of the skin, urinary obstruction, and EB at birth. Electron microscopic study of the biopsy specimen from the first sibling revealed characteristic findings of EB simplex. However, prenatal diagnosis of the next sibling was made by integrin B4 mutations and the electron microscopic study of the biopsy specimen after delivery confirmed junctional EB (JEB). These cases emphasize this unusual combination of defects and limitations of electron microscopy.- - - - - - - - - - ranking = 5keywords = congenita (Clic here for more details about this article) |
7/101. Lumbosacral congenital dermal sinus presenting in a 52-year-old man. Case report.Spinal congenital dermal sinus is a rare entity which results from failure of the neuroectoderm to separate from cutaneous ectoderm during the process of neurulation. This epithelium-lined tract forms a potential communication between the skin surface in the midline along the spine and the deeper tissues. We describe a case of an asymptomatic lumbosacral congenital dermal sinus in a 52-year-old man. Microsurgical excision of dermal tract was performed with no postoperative complications and with a satisfactory cosmetic result. The authors stress the importance of an early neuroradiological and neurosurgical management of the lesion. The embryogenesis of this pathological condition and the possible complications are also discussed.- - - - - - - - - - ranking = 6keywords = congenita (Clic here for more details about this article) |
8/101. association of arrhythmia and sudden death in macrocephaly-cutis marmorata telangiectatica congenita syndrome.macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) constitutes a distinct entity characterized by prenatal overgrowth, macrosomia, hemihypertrophy, macrocephaly, nonobstructive hydrocephaly, frontal bossing, hypotonia, developmental delay, generalized or facial capillary malformation with upper philtral nevus flammeus and cutis marmorata, joint hypermobility, loose skin, toe syndactyly, and postaxial polydactyly. All but one of the cases reported previously had benign clinical courses without showing an increased risk of early infant death. We describe three additional cases with poor clinical outcomes including severe postnatal growth failure, intractable cardiac arrhythmia in two cases, and sudden infant death in two cases. Arrhythmia has not been described previously as one of the symptoms of M-CMCT. patients with M-CMTC associated with severe postnatal growth failure and arrhythmia may constitute a distinct clinical subtype of M-CMTC with an increased risk of life-threatening episodes or sudden death. Recognizing this clinical subtype of M-CMTC is important to prevent these serious potential complications.- - - - - - - - - - ranking = 5keywords = congenita (Clic here for more details about this article) |
9/101. Further clinical delineation in trisomy 1q32 syndrome.A male newborn with multiple congenital abnormalities was studied. Clinically, he showed prominent forehead, facial dysmorphism, ear malformations, congenital heart defect and limb anomalies. The cytogenetic studies demonstrated a karyotype 46,XY, der(18) t(1;18)(q32;p11.3)pat with partial trisomy 1q32-qter and a monosomy 18p. The patient displayed clinical features of trisomy 1q but not of monosomy 18p. There are around 80 reports of trisomy 1q32. The purpose of this paper is to describe the first case of a translocation involving 1q and 18p chromosome breakpoints. Additional findings detected in the propositus permit us a further delineation of the trisomy 1q syndrome.- - - - - - - - - - ranking = 2keywords = congenita (Clic here for more details about this article) |
10/101. Multiple congenital symmetric skin dimples.skin dimples are seldom observed in sites other than the face. We report on a male premature child who was seen at the age of 2 months for the evaluation of cutaneous depressions symmetrically located on the shoulders, elbows and in the sacral region. skin dimples have sometimes been considered a benign autosomal dominant trait. However, several authors have reported these cutaneous defects in a variety of conditions like congenital syndromes, infections, inborn errors of metabolism and mechanical trauma. In our case, the aetiology is unknown, even though maternal drug or infective exposure can reasonably be excluded as well as traumatic events. At a 3-year follow-up, the patient shows a normal psychophysical development. This appears to be the first case of a child presenting congenital, symmetric dimples in three different areas.- - - - - - - - - - ranking = 6keywords = congenita (Clic here for more details about this article) |
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