Diagnosis of osteopetrosis in bilateral congenital aural atresia: Turning point in treatment strategy

Aural atresia is a rare congenital malformation of the external and middle ear. There are several syndromic associations of this anomaly with those involving the first and second branchial arches. Occurrence of aural atresia with sclerosing skeletal dysplasia is unknown and has never been reported. The co-existence of a sclerosing dysplasia can make the surgical treatment in aural atresia difficult and risky; and the auditory improvement may not be as expected. Moreover, internal auditory canal narrowing and hence sensorineural hearing loss in sclerosing dysplasia might add to the already existing conductive hearing loss in such patients. In this case report we have described an unknown association of bilateral microtia with sclerosing skeletal dysplasia (autosomal dominant osteopetrosis) and clinical implications of these two conditions occurring together leading to a change in the management plan.     

Familial distal foregut atresia in a family with likely autosomal dominant inheritance pattern

Familial occurrence of distal foregut atresia (DFA) (Type 1) is rare. Diagnosis is based upon the clinical symptomatology and confirmed by radiological studies, surgery and histology. A number of reports have described families in which several family members have been involved and suggested an autosomal recessive mode of inheritance. Little is known about the underlying genetic causes or indeed the likely pathogenic mechanism. We report a family in which there are five affected cases including three siblings where the DFA appears to be inherited in an autosomal dominant inheritance pattern with reduced penetrance.     

Familial extrahepatic biliary atresia

Only a small number of cases with familial extrahepatic biliary atresia, suggesting a recessive autosomal inheritance, have been reported. However, the cases reported in twins are consistent with an acquired disease. Here the case of two brothers with familial atresia of the extrahepatic biliary system is studied. Diagnosis was confirmed by laparotomy and histologic study of biliary fibrous remnants. In the present cases parental consanguinity might suggest a recessive autosomal inheritance. However, clustering of cases in a family might also suggest a common exposure to responsible factors not so far identified.     

Tricuspid atresia and annular hypoplasia: Report of a familial occurrence

Summary Occurrence of a similar cardiac malformation in multiple family members has been reported for many lesions. Neither tricuspid atresia nor tricuspid annular hypoplasia and tricuspid atresia and one case of tricuspid annular hypoplasia with an atrial septal defect in siblings. The findings in this family suggest an autosomal recessive pattern of inheritance for abnormal tricuspid valve morphogenesis.     

Alveolar capillary dysplasia with antenatal anomalies mimicking trisomy 21

Alveolar capillary dysplasia (ACD) has been described in conjunction with a number of congenital abnormalities. The case reported here was noted in utero to have duodenal atresia and a partial atrioventricular canal defect and a provisional diagnosis of trisomy 21 was considered. A fetal blood sample showed a normal karyotype. The diagnosis of ACD was made at post-mortem following a neonatal death on the tenth day. This case further highlights the range of congenital abnormalities that may be present in cases of ACD that may mimic other conditions, including trisomy 21, on antenatal scan. However, the absence of congenital anomalies, even in the same family, would not exclude the diagnosis of ACD.     

Familial osteopathia striata with cranial condensation

For the first time in the literature, we describe a dominant autosomal inheritance of osteopathia striata with cranial condensation. Including the patients referred to here, the total published cases is ten, sufficient to make it an independent entity. Furthermore, deafness has been detected in 50% of the cases, which gives it greater importance than a mere radiological curiosity.     

Prenatal detection of microtia by MRI in a fetus with trisomy 22

Trisomy 22 is a rare chromosomal abnormality infrequently detected prenatally. External ear abnormalities, in particular microtia, are often associated with trisomy 22, but prenatal detection of microtia has not been reported in association with trisomy 22. We report a fetus with trisomy 22, with fetal MRI findings of microtia, craniofacial dysmorphism, and polygyria. Fetal MRI is a useful tool for auricular assessment and might have utility in the prenatal detection of chromosomal abnormalities, especially among fetuses with structural anomalies.     

A family with hemiplegic migraine and focal seizures.

Familial hemiplegic migraine is a distinctive form of migraine with autosomal dominant inheritance. The patients undergo attacks of migraine complicated by hemiplegia. Seizures have not been reported as comprising a part of this syndrome. We describe three generations of a family with hemiplegic migraine and focal seizures occurring concurrently with the migrainous attacks. There were five affected family members whose clinical features included unilateral headache and transient hemiplegia. Two family members also had focal seizures during the migrainous attacks. One of the patients was treated with carbamazepine with good results. The only associated neurological finding was ataxia which was found in the oldest patient. The presence of focal seizures during an episode of hemiplegic migraine suggests that the two phenomena of migraine and focal seizures may share the same underlying pathophysiology.     

The Wiedemann-Beckwith syndrome in four sibs including one with associated congenital hypothyroidism

Two boys and two girls from a sibship of six, affected with the Wiedemann-Beckwith syndrome (WBS), are reported. One of the patients also had congenital hypothyroidism, an association hitherto undescribed and possibly fortuitous. Neither stigmata of WBS in other family members nor parental consanguinity were found, indicating a possible autosomal dominant inheritance comprising either a delayed mutation of an unstable premutated gene or non-penetrance.Abbreviations WBS Wiedemann-Beckwith syndrome - ADI autosomal dominant inheritance     

Variable expression of neurological phenotype in autosomal recessive oculodentodigital dysplasia of two sibs and review of the literature

Individuals with oculodentodigital dysplasia (ODDD) have a characteristic facial appearance and variable involvement of the eyes, teeth and fingers. Gutmann et al. (Am J Med Genet 41:18, 1990) drew attention to neurological symptoms as a feature in a proportion of individuals with ODDD and demonstrated white matter changes on cranial magnetic resonance imaging. The majority of cases described previously have family histories compatible with autosomal dominant inheritance. Until now, five families have been reported where autosomal recessive inheritance is more likely. Neurological symptoms were described in only one of these families but cerebral imaging was not performed. We describe clinical, including neurological and radiological findings, in two sisters with autosomal recessive ODDD.     

Atypical ichthyosiform erythroderma and congenital neurosensory deafness--a distinct syndrome.

A patient has been studied in whom an atypical ichthyosiform erythroderma was associated with congenital neurosensory deafness, vascularization of the corneas progressing to blindness, alopecia totalis, abnormalities of the teeth and nails, and postnatal growth deficiency. Twelve other patients with a similar pattern of malformation have been reported previously. This syndrome appears to represent a distinct disorder with a pattern of inheritance which is most likely autosomal recessive.     

Multiple synostosis syndrome

An autosomal dominant syndrome is related to multiple fusion of joints, conductive deafness and craniofacial changes.     

Leiomyomatosis of oesophagus,congenital cataracts and hematuria

Isolated oesophageal leiomyomatosis in children is very rare. The association between leiomyomatosis of oesophagus and female genital tract and an Alport like hematuric nephritis has been recognized as a distinct entity by Garcia-Torres and Guarner. Since then few other cases of this syndrome have been observed. Congenital cataracts and neurosensory deafness have been added to the clinical spectrum. Autosomal dominant inheritance is suggested by the familial cases. We report a patient who presents, as a new finding, leiomyomatosis of the rectum.     

Combined rectal atresia and rectal stenosis

A unique case of combined rectal atresia and rectal stenosis with a normal anal canal is reported. To our knowledge, no similar case has been reported to date.     

Kniest disease with Pierre Robin syndrome and hydrocephalus

A 3-month-old male infant with clinical and radiological features of Kniest disease is reported. Additional findings were severe Pierre Robin syndrome and external hydrocephalus. The patient was retarded in mental and motor development. He died at 4 months of age from the complications of tracheostomy. The parents were both normal clinically and radiologically, thus the disease in the child was presumably due to a new mutation. The reported familial cases of Kniest disease suggest autosomal dominant inheritance. The differential diagnosis is discussed in detail.     

Autosomal recessive tubular aggregate myopathy in an Indian family

Tubular aggregate myopathy has been reported in 25 patients worldwide, predominantly in Caucasians and mostly of autosomal dominant inheritance. We are reporting three affected members of an Indian family with autosomal recessive form of the disease, who in addition had varied clinical presentations of the same disease process.     

遗尿症4家系的遗传异质性和时间遗传学分析

目的为探讨遗尿症的遗传方式，我们从遗传异质性和时间进传学方面对遗尿症进行了初步研究。方法对4个遗尿症家系（132人）进行家系、心理状态和遗尿解除时间等因素调查分析。结果4个遗尿症家系中，有2个家系为从性显性遗传，2个家系为常染色体隐性遗传，遗尿症存在着遗传异质性；时间遗传学分析发现近尿症的时间子也是世代相传，并表现为主德尔式遗传；揭示在不同家系中决定遗尿症的基因虽然相同，但由于时间子的不同，从而表现出同是遗尿症却在不同的家系中，有不同的解除遗尿时间，而在同一家系中，由于三维子和时间子均相同，因而表现出相似的解除遗尿时间。结论遗尿症存在着遗传异质性，即具有不同的遗传方式；解除遗尿的时间也表现为孟德尔式遗传。     

KID syndrome (keratitis, ichthyosis and deafness)]

Keratitis, ichthyosis and deafness are the dominant signs of KID syndrome. The lesions involving cornea, epidermis and internal ear are probably the result of a congenital ectodermal abnormality. Associated signs such as increased sensitivity to infections, and dermoskeleton dystrophies are also useful for the diagnosis. There are no specific biological signs. Most cases are sporadic but familial cases have been described with unclear mode of inheritance. Treatment is disappointing. Thus management mainly relies upon early detection of complications.     

Spondylo-costal dysostosis in two siblings.

Two new cases of Spondylo-Costal Dysostosis (SCD) are reported in two siblings with strikingly similar skeletal abnormalities. Parental consanguinity documents in this family an autosomal recessive inheritance of trait. Clinical variability of SCD is discussed on the basis of clinical and radiological features. Its genetic heterogeneity is pointed out even considering the occurrence of cases with autosomal dominant as well as recessive inheritance.