Phenotypic manifestation of congenital transverse amputation of autopod in Pakistani subjects

Terminal transverse deficiency of forearm is a very rare limb malformation. Most of the cases have traumatic etiology and congenital presentation is less common. A series of six individuals with transverse deficiency through the hands is presented in this communication. The cases were congenital, morphologically similar and showed loss of four fingers, most often postaxial. The affected arm was reduced in size compared to the contralateral limb and there was distortion of palmer creases. All cases were sporadic and nonsyndromic in nature. The characteristics of these cases were concordant with the symbrachydactyly type III or monodactylous type, when classified according to the scheme proposed by Blauth and Gekeler [1973]. The malformation resulted in permanent quality-of-life impairment in these subjects and warrant prosthetic management. Detailed physical and phenotypic features of the patients have been presented

Recurrent mutation in CDMP1 in a family with Grebe chondrodysplasia: broadening the phenotypic manifestation of syndrome in Pakistani population

Grebe syndrome [OMIM-200700] is a very rare type of acromesomelic dysplasia with autosomal recessive inheritance. We studied a Pakistani family with two affected individuals having typical features of Grebe chondrodysplasia. Patients were observed with short and deformed limbs having a proximo-distal gradient of severity. Hind-limbs were more severely affected than fore-limbs. Digits on autopods were very short and nonfunctional. Index subject also had nearsightedness. However, symptoms in the craniofacial and axial skeleton were minimal. Genetic analysis revealed four base pair insertion mutation [c.1114insGAGT] in gene coding cartilage-derived morphogenetic protein-1 [CDMP1]. This mutation was predicted to cause premature stop codon. The clinical presentation in this study broadens the range of phenotypes associated with CDMP1 mutation in Pakistani population

Terminal transverse deficiency of fingers, symbrachydactyly with anonychia of toes, and congenital scalp defect: case report of a subject with Adams-Oliver syndrome

Terminal transverse anomalies of digits and congenital scalp defects can occur as separate entities. Both these malformations may accompany each other in a rare hereditary condition called Adams-Oliver syndrome [AOS; OMIM 117600]. AOS is a heterogeneous anomaly which shows occasional involvement of cardio-vascular, pulmonary and frontonasal systems. Additionally, the clinical overlap with other well-characterized malformations like Poland syndrome, cutis marmorata telangiectatica congenita, and aplasia cutis congenita, makes its diagnosis challenging and may compromise accurate genetic counseling and risk estimation. We report a sporadic male child from Southern Punjab, Pakistan in which the phenotypic presentation is consistent with AOS. He had bilateral and asymmetrical terminal deficiency of fingers, symbrachydactyly with anonychia of toes, and aplasia cutis congenita of the scalp. There were no symptoms of any other organ system. We present detailed clinical study with differential diagnosis of AOS

Neonate with congenital transverse deficiency of hand

Congenital transverse limb deficiency is a rare anomaly which manifests itself as aplasia/hypoplasia of the distal structures of limb in transverse axis while the proximal limb remains relatively normal. There is a wide phenotypic variability; the minor type appears as unilateral reduction through the autopod/digits while the extreme forms are characterized by tetramelic transverse imputations through the stylopod. Here, we present the clinical detail and follow up of a male neonate with unilateral transverse deficiency of right hand. The fingers were completely omitted in the affected autopod while a single bead-like nubbin was attached at the radial aspect of the truncated hand. Palm was also reduced and tri-radius was not recognizable. In the roentgenographs, humerus appeared hypoplastic, radius and ulna were dysplastic and proximally fused, and all the digital elements were absent. There was no involvement of any other organ system. Transverse limb defects put a tremendous impact on the affected subject and their families as complete recovery and management through surgery is not possible. Hence, the measures to reduce the prevalence and etiology to these defects are strongly recommended