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At least 145 records · Page 8Linked to original sources
PubMed1987

Hydrolethalus syndrome: report of an apparent mild case, literature review, and differential diagnosis.

We present an infant with manifestations of the hydrolethalus syndrome who has survived for over 5 months; previously, the longest survival reported in this condition has been 2 days. The literature is reviewed and the clinical and pathological findings of our patient are compared with those of the 50 previously reported cases. The differential diagnosis of the condition is discussed.

Abnormalities, Multiple↗
PubMed1987

A genetic follow-up study of 64 patients with the Pierre Robin complex.

A genetic follow-up study has been performed of 64 infants who were diagnosed as having Pierre Robin complex over a 23-year period in South Australia. Patients and their families were contacted, family history was obtained, and physical examinations were performed with an aim to detect heterogeneity and establish recurrence risks. In 16 deceased patients, detailed autopsy reports allowed the conclusion that 12 (70%) had an underlying syndrome. Twelve of the 47 living patients (26%) were diagnosed as having an underlying syndrome, the most common of which was Stickler syndrome (6 cases). In most cases separation of syndromic cases from the nonsyndromic cases was possible in the neonatal period. In the 34 patients without an underlying syndrome, study of pregnancy and birth details did not reveal any distinctive etiologic factors. There was no recurrence in sibs of this group of patients with nonsyndromic Pierre Robin complex.

Child↗
PubMed1990

New acrofacial dysostosis syndrome in 3 sibs.

We performed clinical and autopsy studies on 3 sibs with an acrofacial dysostosis (AFD) syndrome. All 3 died neonatally from respiratory complications derived from their severe mandibular hypoplasia. They presented a malformation syndrome characterized by mandibulofacial dysostosis, predominantly preaxial limb deficiencies, rare postaxial limb anomalies, shoulder/pelvis girdle hypoplasia, and cardiac and CNS malformations. This syndromal form of AFD could represent a distinct entity with autosomal-recessive inheritance. Its delineation from other AFD syndromes is discussed.

Diagnosis, Differential↗
PubMed1990

Severe postaxial acrofacial dysostosis: an anatomic and angiographic study.

We describe a severe case of postaxial acrofacial dysostosis syndrome [POADS] or Genée-Wiedemann syndrome in a stillborn female. The report includes an arteriographic and anatomic study of the limbs. Previously unreported findings such as hypoplasia of the femora, ossification defect of the ischium and pubis, bilobed tongue, and lung hypoplasia were noted. This case documents further variability in the POADS or Genée-Wiedemann syndrome.

Angiography↗
PubMed1990

Trisomy 22 in a liveborn infant with multiple congenital anomalies.

We report on the third confirmed case of trisomy 22 in a liveborn infant. High-resolution banding studies ruled out translocations such as the relatively common t(11;22). The infant shared many manifestations with other reported cases of trisomy 22 (e.g., growth deficiency, microcephaly, micrognathia, ear malformations, cleft palate, and congenital heart defect) and some manifestations in common with dup 22. Trisomy 22 appears to cause a severe malformation syndrome, and survival to term is rare.

Abnormalities, Multiple↗
PubMed1991

Opitz trigonocephaly syndrome.

We report on a patient with Opitz trigonocephaly syndrome. The girl was the first-born child of consanguineous parents and had trigonocephaly, apparent hypertelorism, upslanted palpebral fissures, strabismus, small nose with broad root, abnormally modeled ears, high palate, short neck with loose skin, polysyndactyly, and prominent clitoris and labia majora. In addition, a complex cardiovascular defect (Eisenmenger disease) was observed. The patient was mentally retarded.

Abnormalities, Multiple↗
PubMed1991

Association of the Robin sequence with the fragile X syndrome.

We report on 4 individuals with the fragile X [fra(X)] syndrome and the Robin sequence (or elements of that sequence). To our knowledge, this association has been described in only one other boy. However, males with the fra(X) syndrome have been reported to have an increased incidence of cleft palate. We recommend that children with a cleft palate or the Robin sequence be assessed for developmental delays and a family history of mental retardation. The fra(X) syndrome may be one of the genetic causes of the Robin sequence and, when indicated, children with the sequence should be tested for fra(X).

Cleft Palate↗
PubMed1992

Interstitial deletion of the short arm of chromosome 1 (46XY, del(1)(p13p22.3))

A male patient with a de novo proximal interstitial deletion of the short arm of chromosome 1 (46XY, del(1)(p13p22.3) is described with multiple anomalies and developmental delay. This patient's clinical manifestations are compared to previously reported patients with deletions of chromosome 1p.

Abnormalities, Multiple↗
PubMed1993

Marden-Walker phenotype: spectrum of variability in three infants.

The physical, radiographic, and pathologic findings in 3 new patients with Marden-Walker syndrome (MWS) are compared with those of previously described children with the syndrome. Over 75% of the children with MWS have blepharophimosis, psychomotor retardation, small mouth, micrognathia, kyphosis/scoliosis, and multiple contractures. Minimal diagnostic criteria have yet to be defined attesting to the broad range of variability and potential genetic heterogeneity in this disorder.

Abnormalities, Multiple↗
PubMed1993

Index finger hyperphalangy and multiple anomalies: Catel-Manzke syndrome?

We describe a boy with short stature, developmental delay, unusual face, right iris coloboma, malformed ears, micrognathia, and skeletal anomalies including hyperphalangy of the index fingers, bilateral fifth finger clinodactyly, short halluces, and scoliosis. Internal anomalies included asymmetric and dilated cerebral ventricles and ventricular septal defect. The neonatal history of small jaw with feeding and respiratory difficulties suggested a Pierre Robin sequence, but there was no cleft palate. Two maternal uncles with similar anomalies had died at ages 13 months and 5 years, respectively. RFLP studies with the DNA probes DXS72 and F8C were consistent with but not diagnostic of X-linked recessive inheritance. The pattern of anomalies was compatible with a diagnosis of Catel-Manzke syndrome, but a novel dysostosis syndrome must also be considered.

Abnormalities, Multiple↗
PubMed1995

Amelia of the arms and femur/fibula deficiency with splenogonadal fusion in a child born to a consanguineous couple.

A male infant was born with symmetrical tetramelic limb deficiency consisting of bilateral upper limb amelia with severe symmetrical proximal focal femoral deficiency and fibula deficiency associated with left splenogonodal fusion of the discontinuous type, micrognathia, and a prominent capillary haemangioma of the face. The parents are first cousin Lebanese muslims. This observation suggests the possibility of recessive inheritance in some cases of the Amelia, Femur-Fibula dysostosis syndrome with or without splenogonadal fusion.

Abnormalities, Multiple↗
PubMed1995

Femoral-facial syndrome--prenatal diagnosis--autosomal dominant inheritance.

Fetal micrognathia and short, bowed femora were found on a routine prenatal ultrasonogram. At birth, a cleft palate and the characteristic facial appearance confirmed the diagnosis of the femoral-facial syndrome. (The femoral-facial syndrome [McKusick 137840] was first delineated by Daentl et al. [1975: J Pediatr 86:197-211] and called the "femoral hypoplasia-unusual facies syndrome." We prefer the "femoral-facial syndrome" because it is shorter, more easily translated, and because the McKusick catalog is the most widely recognized standard of nomenclature.) A paternal great uncle, deceased at age 4 years, seems to have had the same condition.

Female↗
PubMed2001

Trigonomicrocephaly, severe micrognathia, large ears, atrioventricular septal defect, symmetrical cutaneous syndactyly of hands and feet, and multiple café-au-lait spots: new acrocraniofacial dysostosis syndrome?

We report on a patient with a unique constellation of anomalies comprising trigonomicrocephaly, asymmetric severe micrognathia, large ears, atrioventricular septal defect, vertebral anomalies, bilateral cutaneous syndactyly of fingers and toes, unilateral cryptorchidism and multiple café-au-lait spots. The mother of the propositus has multiple café-au-lait spots. Search of POSSUM and the London Dysmorphology Database (LDDB) uncovered no similar case. We think that this patient represents a new acrocraniofacial dysostosis syndrome.

Abnormalities, Multiple↗
PubMed2003

Autopsy on a case of Roberts syndrome reported in 1672: the earliest description?

In 1672, François Bouchard reported the autopsy of a male infant discovered on public exhibition at Leiden. The findings of tetraphocomelia more severe in the upper limbs with reduction in the number and length of digits, hydrocephalus, bilateral cleft lip, micrognathia, and cryptorchidism are consistent with a diagnosis of Roberts syndrome. Bouchard did not find internal abnormalities other than hydrocephalus, which he attempted to demonstrate by showing decreased specific gravity of the brain. Death was due to umbilical vein hemorrhage following birth trauma.

Abnormalities, Multiple↗
PubMed2004

Infant with severe penicillamine embryopathy born to a woman with Wilson disease.

We report a chromosomally normal infant boy with congenital diffuse cutis laxa, severe micrognathia, contractures of all limbs, and central nervous system abnormalities including agenesis of the corpus callosum, born to a woman taking D-penicillamine (DP) for Wilson disease (WD) throughout her pregnancy. His postnatal course was remarkable for chronic lung disease, profound developmental delays, and probable cortical blindness, as well as resolution of his cutis laxa. Embryopathy is a rare complication in babies born to pregnant women treated with DP, and there have been only seven previous reports of birth defects in exposed infants (three of which had favorable postnatal outcomes). The etiology of the severe outcome in this boy is unclear, but prenatal measurement of maternal copper and zinc levels may be indicated for management.

Abnormalities, Drug-Induced↗
PubMed2003

Thyroid dysfunction in a patient with aglossia.

We report a Thai girl who had aglossia, micrognathia, microsomia, collapse of mandibular arch, persistence of buccopharyngeal membrane, microcephaly, and mild developmental delay. Thyroid function tests indicated that she had subclinical hypothyroidism. Thyroid scan revealed normal uptake of the whole thyroid gland. Tongue morphogenesis is integrally linked to the normal development of thyroid gland, and abnormal tongue morphogenesis could potentially result in a functional thyroid disorder. We propose that micrognathia, microsomia, congenital absence of mandibular incisors, and collapse of the mandibular arch are the result of abnormal tongue development.

Abnormalities, Multiple↗
PubMed2003

Interstitial 1q25.3-q31.3 deletion in a boy with mild manifestations.

We describe a 4-year-old boy with an accessory right thumb, short and broad toes, cryptorchidism, micrognathia, abnormally modeled ears, and delayed speech development. The chromosome analysis of patient's peripheral blood lymphocytes by conventional GTG banding demonstrated a small deletion in the long arm of chromosome 1. Confirmation and defined localization of the deleted segment to chromosomal bands 1q25.3-q31.3 was obtained by high resolution prometaphase analysis. Molecular studies, using a set of polymorphic chromosome 1q specific microsatellite markers, localized the deletion between the markers D1S2127 and D1S1727 on the paternally inherited chromosome 1. The maximum physical distance between these markers is approximately 21 Mb. The previously described two patients with 1q25-q31 deletions both had severe clinical manifestations, just as the other 10 patients with the proposed "intermediate 1q deletion syndrome," associated with 1q25-q32 deletions. Distinct from all these patients, the clinical picture of our patient is markedly milder, i.e., without growth retardation, microcephaly, or clear mental retardation.

Child, Preschool↗