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PubMed2003

Anaesthetic implications of Costello syndrome.

Costello syndrome is a disorder that primarily involves ectodermal tissues and is characterized by mental and growth retardation, distinctive coarse facies, redundant skin (neck, palms and soles), and papillomata (perioral, nasal and anal). Of primary concern to anaesthesiologists are potential airway difficulties related a short neck, macroglossia, hypertrophied tonsillar and supraglottic tissues, laryngeal papillomata and choanal atresia. A significant percentage of patients also have cardiac involvement which may manifest as congenital heart defects, arrhythmias, valvular dysfunction, or hypertrophic cardiomyopathy. Central nervous system involvement includes developmental delay and seizure disorders while endocrine abnormalities have been reported including hypothalamic-pituitary dysfunction resulting in hypopituitarism, hypothyroidism, and hypoadrenalism. The authors present a 2-year old child with Costello syndrome who required anaesthesia for direct laryngoscopy, rigid bronchoscopy, bilateral pressure equalization tubes and tonsillectomy. The perioperative implications of the syndrome are discussed.

Abnormalities, Multiple↗

PubMed2006

Craniofacial malformations: intrinsic vs extrinsic neural crest cell defects in Treacher Collins and 22q11 deletion syndromes.

The craniofacial complex is anatomically the most sophisticated part of the body. It houses all the major sensory organ systems and its origins are synonymous with vertebrate evolution. Of fundamental importance to craniofacial development is a specialized population of stem and progenitor cells, known as the neural crest, which generate the majority of the bone, cartilage, connective and peripheral nerve tissue in the head. Approximately one third of all congenital abnormalities exhibit craniofacial malformations and consequently, most craniofacial anomalies are considered to arise through primary defects in neural crest cell development. Recent advances however, have challenged this classical dogma, underscoring the influence of tissues with which the neural crest cells interact as the primary origin of patterning defects in craniofacial morphogenesis. In this review we discuss these neural crest cell interactions with mesoderm, endoderm and ectoderm in the head in the context of a better understanding of craniofacial malformations such as in Treacher Collins and 22q11 deletion syndromes.

Chromosome Deletion↗

PubMed1987

Subcellular effects of experimental oligohydramnios on the developing rat limb.

In the rat, the development of the limb bud can be impaired by amniotic puncture. Selective haemorrhages are observed within 1 hour of the treatment. An ultrastructural analysis was undertaken to uncover the cytological changes associated with these haemorrhages. The earliest effect of oligohydramnios is the appearance of a periendothelial oedema which separates the mesodermal cellular processes from the endothelial basal lamina. The loosening of the latter and the distortion of the endothelial cells occur almost simultaneously. Subsequent damage of the mesodermal cells ensues, the ectoderm and the preskeletal condensations remaining unaffected. Only general damage of the embryo affecting all tissues will lead to the complete necrosis of the limb bud and even to foetal death. The great variability of skeletal defects observed in amniocentesis syndrome can be accounted for by the higher resistance of the differentiating cells to a decrease in blood supply.

Amniocentesis↗

PubMed1988

Pathogenetic analysis of certain developmental and genetic ectodermal defects.

It is postulated that, in the nevoid basal cell carcinoma syndrome, independent mosaic pleiotropic action of the mutant gene on morphogenesis and histogenesis produces primary malformations of midline and nonmidline structures and dysplasias more or less highly predisposed to cancer development. However, in focal dermal hypoplasia and the Bartsocas-Papas syndrome, it is highly tempting to postulate that embryonic dysplasias, ie, breakdown or necrosis of ectoderm, especially in the region of the Ekdodermring, are responsible for the production of many of the congenital anomalies seen in these patients, and that these anomalies more likely represent sequences rather than primary malformations. The sequences in the type 1 fetal epidermal dysplasias probably represent mucosal breakdown, producing various upper gut atresias and an epidermal "disease" with loss of epidermis and many severe secondary consequences. Polyhydramnios, micrognathia, "arthrogryposis," reduced fetal growth, and short umbilical cord are other consequences of fetal hypokinesia due to stiff skin in the type 2 fetal epidermal dysplasias, with severe muscle involvement in the Hutterite-Mennonite type possibly responsible for additional fetal hypokinesia. Thus it seems likely that embryonic and fetal dysplasias can now be held responsible, directly and indirectly, for a fascinating variety of human congenital anomalies.

Basal Cell Nevus Syndrome↗

PubMed1991

The cardio-facio-cutaneous syndrome: report of a patient and review of the literature.

We report a 3-year-old girl with the cardio-facio-cutaneous (CFC) syndrome. She presented the typical combination of mild developmental delay, postnatal onset short stature with relative macrocephaly, a wide and prominent forehead with posteriorly rotated ears and down-slanting palpebral fissures, an atrial septal defect, and ectodermal abnormalities. All cases reported to date occurred sporadically. The aetiology remains unknown; de novo mutations of an autosomal dominant gene seem the most likely explanation.

Abnormalities, Multiple↗

PubMed2000

Ellis van Creveld syndrome (chondroectodermal dysplasia, MIM 22550) in three siblings from a non-consanguineous mating.

The major diagnostic features of Ellis van Creveld syndrome (EvC) includes disproportionate short stature, polydactyly, ectodermal anomalies, and structural heart defects. We describe three siblings with EvC of a non-consanguineous mating. The history of these siblings well illustrate the clinical manifestations and complications that children with EvC encounter. All three girls had short stature, narrow rib cage, polydactyly and nail hypoplasia. The first daughter died in early infancy in respiratory failure. The second daughter underwent open heart surgery for atrial septal defect repair. The third daughter, diagnosed in utero with fetal ultrasonography, currently is scheduled for surgical excision of extra-digits and extraction of neonatal teeth. Infant mortality rates among patients with EvC is strikingly high due primarily to cardiorespiratory failure. If they survive infancy morbidity is significant. The gene effected in individuals with EvC has recently been identified on the short arm of chromosome 4. Future testing for gene mutations may provide valuable information for premarital counseling and prenatal diagnosis. Three offspring with disproportionate short stature, polydactyly, and ectodermal dysplasia of a non-consanguineous mating, strongly indicate parental heterozygosity for Ellis van Creveld syndrome.

Adult↗

PubMed1996

Congenital Alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency in two sibs.

We report on two sisters affected by congenital alopecia, nail dystrophy, and a severe T-cell immunodeficiency, presumably inherited as an autosomal-recessive disorder. The T-cell defect was characterized by severe functional impairment, as shown by the lack of proliferative response and upregulation of activation markers following mitogen stimulation. The functional abnormality occurred in spite of the presence of phenotypically mature of the defect. This is the first observation reported on an ectodermal disorder, characterized by alopecia and nail dystrophy, observed at birth, in association with a primary immunodeficiency. The hypothesis that these two events may be casually related is discussed.

Alopecia↗

PubMed1993

A severe case of Beare-Stevenson syndrome and associated congenital deformities.

A severe case of congenital anomalies is described, with several characteristics of Beare-Stevenson syndrome, such as cutis gyrata, acanthosis nigricans, craniofacial anomalies, ear defects, enlarged umbilical stump and anogenital anomalies. He does not have craniosynostosis or clover leaf skull, which has also been described in this syndrome. This patient also shows hands and feet anomalies, absence of skin adnexa in several locations and dental anomalies, which could suggest an associated ectodermal dysplasia.

Abnormalities, Multiple↗

PubMed1989

Two cases of hereditary keratoderma with congenital glaucoma.

Two cases are reported: a father and son with a new syndrome consisting of a severe congenital glaucoma associated with a form of palmoplantar keratoderma showing features of mutilating palmoplantar keratoderma. Both the glaucoma and keratoderma may be attributed to an autosomal dominantly inherited genetic mutation of a single chromosome affecting two tissues of neural crest origin, the ectodermal tissues of the hands and feet and the cranial mesenchyme from which the tissues of the chamber angle develop. Elucidation of the precise chromosomal abnormality causing these defects may help in understanding the inheritance and aetiology of glaucoma.

Adult↗

PubMed1994

Congenital abnormalities associated with limb deficiency defects: a population study based on cases from the Hungarian Congenital Malformation Registry (1975-1984).

Limb deficiency defects (LD) occurring among 1,575,904 births in Hungary during 1975-1984 were reviewed. The overall birth prevalence of LD was 1 in 1,816. This paper discusses the nature and distribution of the limb and other defects in the 275 (32%) children who had structural malformations in other systems. Two main forms of classification were used: morphologic and causal. Additional malformations were most commonly seen in infants with amelia, rudimentary limb (RL), radial/tibial (RT), intercalary or central axis (CA) LD and rarely in those with terminal transverse (TT) or ulnar/fibular (UF) defects. Upper limbs (81%) were involved significantly more often than lower limbs (42%) and there were more right-sided defects (83% vs. 71%) due to an excess of right arm involvement especially with radial ray and split hand anomalies. Single limb involvement was relatively common with amelia (88%), UF (82%), RT (50%), and TT (50%) defects. With other LD, multimelic involvement was more characteristic. This was usually symmetric with intercalary and RL defects but asymmetric with CA anomalies and digital deficiencies (DD). From a causal perspective, 17% of cases had genetic disorders, 52% had recognized associations, anomalies, sequences, environmental causes or patterns of unknown origin, and 31% had unknown patterns of malformations. The commonest entities were amnion disruption sequence (16% of cases) and VACTERL association (8%). Both of these disorders showed unusual temporal distribution. As anticipated, patterns of malformations differed with the type of LD. Amelia and digital amputations were often seen with body wall defects, atypical anencephaly or encephalocele, and cleft lip reflecting amnion disruption. Rudimentary limb was seen with anencephaly, omphalocele, renal agenesis, aberrant genitalia, and imperforate anus, reflecting defects of blastogenesis including the cloacal exstrophy and caudal regression sequences and Schisis association. Radial/tibial defects were associated with different patterns depending on whether the limb defects were unilateral or bilateral. Unilateral defects occurred with anomalies suggesting VACTERL association or the facio-auriculo-vertebral anomaly, while bilateral defects occurred more often in genetic or potentially genetic disorders including VACTERL with hydrocephalus. Central axis defects showed three main patterns of association: one reflecting the ectrodactyly-ectodermal dysplasia-clefting syndrome; one with tongue anomalies representing a variant of oro-mandibular-limb (Hanhart) anomaly, and the last with hydronephrosis indicating a group of "acro-renal" syndromes. Strong associations with other anomalies were not seen in the groups with TT, UF, or intercalary defects.

Abnormalities, Multiple↗

PubMed2005

[Complex polydactyly of the limbs: mirror foot. Report of two cases and review of literature].

Polydactyly is the most common congenital limb anomaly occurring both as an isolated defect or as part of a syndrome. However mirror foot is an exceptional abnormality (14 cases reported). The authors describe two sporadic cases of mirror foot. The first case presents a mirror polydactyly of the left foot, an hexadactyly of the right foot and a central polysyndactyly of both hands. The second case presents a mirror polydactyly of both feet. Mirror foot is a very rare defect. Both sporadic and familiar cases have been reported. This malformation can affect one or both feet. Some cases are associated with other congenital anomalies. The definition of mirror foot is warying according to the authors and the review of literature shows an important variability in the patterns of mirror polydactyly. Mirror duplication of hands and feet result of aberrant positioning of the zone of polarizing activity in relation to the apical ectodermal ridge during limb bud development. Different genes encoding limb pattern have been described.

Abnormalities, Multiple↗

PubMed1993

Acalvaria: a unique congenital anomaly.

Acalvaria is a rare malformation usually regarded as a postneurulation defect. It consists of absence of the calvarial bones, dura mater and associated muscles in the presence of a normal skull base and normal facial bones. The condition is frequently confused by prenatal ultrasonography with anencephaly or an encephalocele. Whereas the cerebral hemispheres are absent in anencephaly, the cranial contents in acalvaria are generally complete, though some neuropathological abnormality is often present. The presumed pathogenesis of acalvaria is faulty migration of the membranous neurocranium with normal placement of the embryonic ectoderm, resulting in absence of the calvaria but an intact layer of skin over the brain parenchyma. We describe 2 cases of acalvaria, one misdiagnosed ultrasonographically as an occipital encephalocele prenatally. The brain in one fetus demonstrated semilobar holoprosencephaly and micropolygyria, but in the other, was structurally and histologically normal with the exception of hydrocephalus.

Abortion, Therapeutic↗

PubMed1990

Characteristics of the limb malformations induced by maternal exposure to cadmium in the mouse.

Single doses of 2,3,4,6,8,10, and 15 mg/kg of cadmium chloride were administered (SC) to groups of MF1 mice on one of days 7 to 12 of gestation. Fetuses collected on day 18 were observed for limb malformations, and alizarin red-S stained skeletons were examined for their skeletal bases. Ectrodactyly, postaxial polydactyly, syndactyly, brachydactyly, adactyly, phocomelia, meromelia, and malrotation of the limbs were detected in a significant number of fetuses. Days 7 to 10 were greatly susceptible for induction of these malformations. Postaxial ectrodactyly was more frequent in the forepaws, and sidedness was not significant. Preaxial ectrodactyly preferentially affected the left hindpaws in the 9th-day treatment group. Postaxial polydactyly was predominently right sided and mostly involved the forepaws. Day 8 was particularly susceptible for induction of adactyly. Malrotation of the limbs together with edema and caudal narrowing resulted in a 'penguin-like' appearance. Ossification of the long bones, the carpals, tarsals, and phalanges were affected. Even those limbs that were not externally malformed had skeletal dysgenesis. Limb buds examined histologically at midgestation showed scanty and poorly organized mesenchyme, extensive elaboration of marginal sinsus, reduced thickness of the apical ectodermal ridge (AER), and discontinuous basement membrane. It is speculated that such histologic alterations at early stages of development could have contributed to the defective morphogenesis of limbs in this animal model.

Abnormalities, Drug-Induced↗

PubMed2002

Familial external angular dermoid: evidence for a genetic link?

Congenital craniofacial dermoid cysts are hamartomas of ectodermal and mesodermal origin, made up of keratinizing epithelium lining a cavity containing dermal skin appendages. They usually present as an asymptomatic, firm, round mass, usually noticed at birth or in the first year. They are thought to occur as a result of ectodermal sequestration at lines of fusion during embryological development. Although nasal and epibulbar dermoid cysts have occurred in families and have been associated with inheritable gene defects, there has previously been no evidence for a similar etiology in external angular cases. We present the first description of external angular dermoids occurring in siblings suggesting that this subgroup may, in some instances, also have a genetic origin.

Adolescent↗

PubMed2004

Cardio-facio-cutaneous syndrome: report of a case with a review of the literature.

A sporadic case of cardio-facio-cutaneous syndrome occurring in an 18-year-old girl is reported, with a brief review of pertinent literature, for its rarity and clinical interest. She had a characteristic cranio-facial appearance, a wide range of ectodermal defects, dystrophic nails and teeth, palmo-plantar keratoderma, typical short, coarse, unruly hair, pulmonic stenosis and mild mental retardation. She had no history of consanguinity and genetic studies did not reveal any abnormality.

Abnormalities, Multiple↗

PubMed1984

Dental features in congenital persistent renal tubular acidosis of proximal type.

The dental features in a hitherto unknown type of renal tubular acidosis (capillary blood pH 7.07-7.15) of proximal type are reported. The patient presented agenesis of three second premolars, delayed development and eruption of permanent teeth, delayed shedding of the primary dentition and severe enamel hypoplasia of the permanent teeth. Apart from exceptionally thin enamel, histologic, fluorescent and polarization microscopic and microradiographic investigation of three primary teeth did not reveal unusual findings. The changes are most probably due to a generalized, acidosis-induced defect in several highly differentiated ectodermal tissues.

Acidosis, Renal Tubular↗

PubMed1997

Expanded phenotype of cranioectodermal dysplasia (Sensenbrenner syndrome)

Cranioectodermal dysplasia (CED) is an autosomal recessive condition characterized by defects of ectoderm-derived structures and characteristic bone anomalies. We report on a 27-month-old Caucasian girl with CED, pre- and postnatal growth retardation, microcephaly, hypoplasia of the posterior corpus callosum, photophobia, and aberrant calcium homeostasis. Since new traits were encountered, we reviewed all reported patients and one unpublished case and compared the frequency rates of the individual manifestations. The findings present in all patients are dolichocephaly and rhizomelia. Ectodermal dysplasia manifestations are variable. Short thorax and heart defect are inconsistent. Previously unreported anomalies include growth deficiency, delayed psychomotor development, microcephaly, photophobia, and abnormal calcium homeostasis. These clinical manifestations may facilitate the diagnosis of this condition.

Adult↗

PubMed2001

Ventricular diverticulum at the posterior horn of the lateral ventricle presenting as aplasia cutis congenita.

Non-communicating hydrocephalus can cause rupture of the lateral or third ventricle, generally in the medial wall of the trigone or the posterior wall of the third ventricle, resulting in a cystic lesion known as ventricular diverticulum. In this paper, we describe a rare case of ventricular diverticulum located in the posterior horn of the lateral ventricle and expanding to bulge with a convexity reaching into the subdural space in a neonate. Aplasia cutis congenita and a bone defect were also present in the same neonate. Early surgical repair of the scalp defect and ventriculoperitoneal shunting were performed. In addition to illustrating the rare co-existence of a ventricular diverticulum at the posterior horn of the lateral ventricle and aplasia cutis congenita in a neonate, this case also offers new insights into the pathogenesis of these congenital anomalies.

Brain Diseases↗